Search Results

[Using PGT to give birth to hereditary conductive deafness SYNS1 family a healthy offspring: a case report].

• Authors : Fu Y; National Clinical Research Center for Otolaryngologic Diseases, College of Otolaryngology-Head and Neck Surgery, Sixth Medical Center of the PLA General Hospital, Beijing 100037, China Department of Otorhinolaryngology, Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shandong University, Qingdao 266035, China.; Huang SS

Subjects: Genetic Testing* ; Deafness*/Deafness*/Deafness*/genetics; Humans

• Source: Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery [Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi] 2024 Mar 07; Vol. 59 (3), pp. Publisher: Zhonghua yi xue hui za zhi she Country of Publication: China NLM ID: 101247574 Publication Model: Print Cited Medium: Print ISSN:

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Correspondence on "The views of people with a lived experience of deafness and the general public regarding genetic testing for deafness in the reproductive setting: A systematic review" by Freeman et al.

• Authors : Li J; Medical Genetics Center, Lanzhou Maternal and Child Health Hospital, Gansu, China.; Sun X

Subjects: Genetic Testing* ; Deafness*/Deafness*/Deafness*/diagnosis ; Deafness*/Deafness*/Deafness*/genetics

• Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jan; Vol. 25 (1), pp. 155-156. Date of Electronic Publication: 2022 Nov 14.Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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The views of people with a lived experience of deafness and the general public regarding genetic testing for deafness in the reproductive setting: A systematic review.

• Authors : Freeman L; School of Women's and Children's Health, Medicine, UNSW, Randwick, New South Wales, Australia; Graduate School of Health, University of Technology Sydney, Sydney, New South Wales, Australia.

Subjects: Deafness*/Deafness*/Deafness*/diagnosis ; Deafness*/Deafness*/Deafness*/genetics ; Genetic Testing*Nonsyndromic Deafness

• Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Sep; Vol. 24 (9), pp. 1803-1813. Date of Electronic Publication: 2022 Jun 03.Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Personal utility of genomic sequencing for infants with congenital deafness.

• Authors : Tutty E; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.

Subjects: Genetic Testing* ; Genomics*; Deafness/Deafness/Deafness/*diagnosis

• Source: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Dec; Vol. 185 (12), pp. 3634-3643. Date of Electronic Publication: 2021 Jun 29.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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[Analysis of results of concurrent hearing and deafness genetic screening and follow up of 33 911 newborns].

• Authors : Lei J; Department of Clinical Laboratory, Shenzhen Nanshan Maternity and Child Health Care Hospital, Shenzhen, Guangdong 518067, China. .; Han L

Subjects: Deafness*/Deafness*/Deafness*/epidemiology ; Deafness*/Deafness*/Deafness*/genetics ; Genetic Testing*/Genetic Testing*/Genetic Testing*/statistics & numerical data

• Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2021 Jan 10; Vol. 38 (1), pp. 32-36.Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Mutation spectrum and hotspots of the common deafness genes in 314 patients with nonsyndromic hearing loss in Heze area, China.

• Authors : Zhang M; a Department of Otolaryngology-Head and Neck Surgery , Shandong Provincial ENT Hospital, Shandong Provincial ENT Hospital Affiliated to Shandong University , Jinan , P.R. China.; b Key Laboratory of Otorhinolaryngology, National Health Commission (Shandong University) , Jinan , P.R. China.

Subjects: Deafness/Deafness/Deafness/*epidemiology ; Deafness/Deafness/Deafness/*genetics ; Genetic Testing/Genetic Testing/Genetic Testing/*methods Nonsyndromic Deafness

• Source: Acta oto-laryngologica [Acta Otolaryngol] 2019 Jul; Vol. 139 (7), pp. 612-617. Date of Electronic Publication: 2019 May 20.Publisher: Taylor & Francis Country of Publication: England NLM ID: 0370354 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Suspension array-based deafness genetic screening in 53,033 Chinese newborns identifies high prevalence of 109 G>A in GJB2.

• Authors : Zou Y; Department of Otolaryngology, Guangdong Women and Children Hospital, Guangzhou, 511400, China.; Dai QQ

Subjects: Genetic Testing* ; Mutation* ; Neonatal Screening*

• Source: International journal of pediatric otorhinolaryngology [Int J Pediatr Otorhinolaryngol] 2019 Nov; Vol. 126, pp. 109630. Date of Electronic Publication: 2019 Aug 07.Publisher: Elsevier Scientific Publishers Country of Publication: Ireland NLM ID: 8003603 Publication Model: Print-Electronic Cited Medium: Internet

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Combined hearing screening and genetic screening of deafness among Hakka newborns in China.

• Authors : Zeng X; Laboratory of Medical Genetics, Heyuan Women and Children's Hospital, Heyuan, Guangdong, China; Department of Clinical Laboratory, Heyuan Women and Children's Hospital, Heyuan, Guangdong, China. Electronic address: .

Subjects: Genetic Testing/Genetic Testing/Genetic Testing/*methods ; Hearing Loss/Hearing Loss/Hearing Loss/*diagnosis ; Hearing Tests/Hearing Tests/Hearing Tests/*methods

• Source: International journal of pediatric otorhinolaryngology [Int J Pediatr Otorhinolaryngol] 2020 Sep; Vol. 136, pp. 110120. Date of Electronic Publication: 2020 Jun 17.Publisher: Elsevier Scientific Publishers Country of Publication: Ireland NLM ID: 8003603 Publication Model: Print-Electronic Cited Medium: Internet

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The prevalence of deafness-associated mutations in neonates: A meta-analysis of clinical trials.

• Authors : Chen S; Health Care Dept, Guangdong Women and Children's Hospital, Guangzhou Medical University, Guangzhou, Guangdong, China.; Liang Z

Subjects: Deafness/Deafness/Deafness/*genetics ; Genetic Testing/Genetic Testing/Genetic Testing/*statistics & numerical data; Asian People/Asian People/Asian People/genetics

• Source: International journal of pediatric otorhinolaryngology [Int J Pediatr Otorhinolaryngol] 2019 Jun; Vol. 121, pp. 99-108. Date of Electronic Publication: 2019 Mar 08.Publisher: Elsevier Scientific Publishers Country of Publication: Ireland NLM ID: 8003603 Publication Model: Print-Electronic Cited Medium: Internet

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Hearing Screening Combined with Target Gene Panel Testing Increased Etiological Diagnostic Yield in Deaf Children.

• Authors : Xie L; Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430022, China.; Qiu Y

Subjects: Genetic Testing* ; Mutation*; Deafness/Deafness/Deafness/*diagnosis

• Source: Neural plasticity [Neural Plast] 2021 Jul 23; Vol. 2021, pp. 6151973. Date of Electronic Publication: 2021 Jul 23 (Print Publication: 2021).Publisher: Hindawi Pub. Corp Country of Publication: United States NLM ID: 100883417 Publication Model: eCollection Cited Medium: Internet ISSN:

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Comprehensive Genetic Testing for Deafness from Fresh and Archived Dried Blood Spots.

• Authors : Shearer AE; Department of Otolaryngology-Head and Neck Surgery, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.; Molecular Otolaryngology and Renal Research Laboratories, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.

Subjects: Deafness/Deafness/Deafness/*blood ; Deafness/Deafness/Deafness/*diagnosis ; Genetic Testing/Genetic Testing/Genetic Testing/*methods

• Source: Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery [Otolaryngol Head Neck Surg] 2018 Dec; Vol. 159 (6), pp. 1058-1060. Publisher: Wiley Country of Publication: England NLM ID: 8508176 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6817

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Large scale newborn deafness genetic screening of 142,417 neonates in Wuhan, China.

• Authors : Hao Z; Institute of Genomic and Personalized Medicine, College of Life Science, Huazhong University of Science and Technology, Wuhan, Hubei, China.; Fu D

Subjects: Mutation*; Connexins/Connexins/Connexins/*genetics ; Deafness/Deafness/Deafness/*diagnosis

• Source: PloS one [PLoS One] 2018 Apr 10; Vol. 13 (4), pp. e0195740. Date of Electronic Publication: 2018 Apr 10 (Print Publication: 2018).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

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Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach.

• Authors : Yan D; Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, United States of America.; Xiang G

Subjects: Oligonucleotide Array Sequence Analysis*/Oligonucleotide Array Sequence Analysis*/Oligonucleotide Array Sequence Analysis*/instrumentation; DNA/DNA/DNA/*metabolism ; Deafness/Deafness/Deafness/*genetics

• Source: PloS one [PLoS One] 2017 Mar 08; Vol. 12 (3), pp. e0169219. Date of Electronic Publication: 2017 Mar 08 (Print Publication: 2017).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

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Perception of Genetic Testing for Deafness and Factors Associated with Interest in Genetic Testing Among Deaf People in a Selected Population in Sub-Saharan Africa.

• Authors : Adedokun BO; Department of Epidemiology and Medical Statistics, College of Medicine, University of Ibadan, Ibadan, Nigeria.; Yusuf BO

Subjects: Deafness/Deafness/Deafness/*diagnosis ; Genetic Counseling/Genetic Counseling/Genetic Counseling/*psychology ; Genetic Testing/Genetic Testing/Genetic Testing/*methods

• Source: Journal of genetic counseling [J Genet Couns] 2015 Dec; Vol. 24 (6), pp. 1037-43. Date of Electronic Publication: 2015 May 19.Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599

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Concurrent Hearing, Genetic, and Cytomegalovirus Screening in Newborns, Taiwan.

• Authors : Lu CY; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.; Tsao PN

Subjects: Audiometry*; Cytomegalovirus Infections/Cytomegalovirus Infections/Cytomegalovirus Infections/*diagnosis ; Deafness/Deafness/Deafness/*diagnosis

• Source: The Journal of pediatrics [J Pediatr] 2018 Aug; Vol. 199, pp. 144-150.e1. Date of Electronic Publication: 2018 Apr 19.Publisher: Mosby Country of Publication: United States NLM ID: 0375410 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6833

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Targeted Exome Sequencing of Deafness Genes After Failure of Auditory Phenotype-Driven Candidate Gene Screening.

• Authors : Kim BJ; Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Hospital, Seoul; †Department of Otorhinolaryngology-Head and Neck Surgery, Dankook University Hospital, Cheonan

Subjects: Deafness/Deafness/Deafness/*genetics ; Exome/Exome/Exome/*genetics ; Genetic Testing/Genetic Testing/Genetic Testing/*methods

• Source: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology [Otol Neurotol] 2015 Jul; Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 100961504 Publication Model: Print Cited Medium: Internet

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Detecting novel mutations and combined Klinefelter syndrome in Usher syndrome cases.

• Authors : Li X; a Department of Otolaryngology, Head and Neck Surgery , Chinese PLA General Hospital , Beijing , PR China.; Huang S

Subjects: Genetic Predisposition to Disease*; Deafness/Deafness/Deafness/*genetics ; Genetic Testing/Genetic Testing/Genetic Testing/*methods

• Source: Acta oto-laryngologica [Acta Otolaryngol] 2019 Jun; Vol. 139 (6), pp. 479-486. Date of Electronic Publication: 2019 Apr 29.Publisher: Taylor & Francis Country of Publication: England NLM ID: 0370354 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Genetic screening involving 101 hot spots for neonates not passing newborn hearing screening and those random recruited in Dongguan.

• Authors : Liu Y; Department of Prenatal Diagnosis Center, Dongguan Maternal and Child Health Hospital, Dongguan 523112, Guangdong, China.; Ye L

Subjects: Deafness/Deafness/Deafness/*genetics ; Genetic Testing/Genetic Testing/Genetic Testing/*methods ; Hearing Tests/Hearing Tests/Hearing Tests/*methods

• Source: International journal of pediatric otorhinolaryngology [Int J Pediatr Otorhinolaryngol] 2019 Feb; Vol. 117, pp. 82-87. Date of Electronic Publication: 2018 Nov 22.Publisher: Elsevier Scientific Publishers Country of Publication: Ireland NLM ID: 8003603 Publication Model: Print-Electronic Cited Medium: Internet

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Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach.

• Authors : Wang J; Department of Obstetrics and Gynecology, The First Affiliated Hospital of USTC, Division of Life Sciences and Medicine, University of Science and Technology of China, Hefei, 230001, Anhui, China.; Xiang J

Subjects: Deafness/Deafness/Deafness/*diagnosis ; Deafness/Deafness/Deafness/*genetics ; Genetic Testing/Genetic Testing/Genetic Testing/*methodsNonsyndromic Deafness

• Source: Scientific reports [Sci Rep] 2021 Feb 17; Vol. 11 (1), pp. 4036. Date of Electronic Publication: 2021 Feb 17.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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[Screening of common deafness gene mutations in 17 000 Chinese newborns from Chengdu based on microarray analysis].

• Authors : Lyu K; Chengdu Women's & Children's Central Hospital, Chengdu, Sichuan 610091, P.R.China. .; Xiong Y

Subjects: Mutation*; Deafness/Deafness/Deafness/*genetics ; Genetic Predisposition to Disease/Genetic Predisposition to Disease/Genetic Predisposition to Disease/*genetics

• Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2014 Oct; Vol. 31 (5), pp. 547-52.Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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"My Plate is Full": Reasons for Declining a Genetic Evaluation of Hearing Loss.

• Authors : Lesperance MM; Division of Pediatric Otolaryngology, Department of Otolaryngology-Head and Neck Surgery, University of Michigan Health System, CW-5-702 SPC 4241, 1540 East Hospital Drive, Ann Arbor, MI, 48109-4241, USA. .; Winkler E

Subjects: Genetic Testing*; Deafness/Deafness/Deafness/*psychology ; Genetic Counseling/Genetic Counseling/Genetic Counseling/*psychology

• Source: Journal of genetic counseling [J Genet Couns] 2018 Jun; Vol. 27 (3), pp. 597-607. Date of Electronic Publication: 2017 Oct 04.Publisher: Wiley Country of Publication: United States NLM ID: 9206865 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3599

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[Progress in the clinical application of gene detection technology of deafness].

• Authors : Du YT; Cui QJ; Huang LH

Subjects: Genetic Testing* ; Oligonucleotide Array Sequence Analysis* ; Sequence Analysis, DNA*

• Source: Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery [Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi] 2016 Apr 20; Vol. 30 Publisher: Lin chuang er bi yan hou tou jing wai ke za zhi bain ji bu Country of Publication: China NLM ID: 101303164 Publication Model: Print Cited Medium:

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[Prevention of deafness based on genetic screening and testing].

• Authors : Dai P; Email: .; Yuan YY

Subjects: Genetic Testing*; Congenital Abnormalities/Congenital Abnormalities/Congenital Abnormalities/*genetics ; Deafness/Deafness/Deafness/*genetics

• Source: Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery [Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi] 2013 Dec; Vol. 48 (12), pp. Publisher: Zhonghua yi xue hui za zhi she Country of Publication: China NLM ID: 101247574 Publication Model: Print Cited Medium: Print ISSN:

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Genetic Testing of Non-familial Deaf Patients for CIB2 and GJB2 Mutations: Phenotype and Genetic Counselling.

• Authors : Shaikh H; Molecular Biology and Genetics Department, Medical Research Center, Liaquat University of Medical and Health Sciences, Jamshoro, Pakistan.; Waryah AM

Subjects: Genetic Testing* ; Mutation* ; Phenotype*

• Source: Biochemical genetics [Biochem Genet] 2017 Dec; Vol. 55 (5-6), pp. 410-420. Date of Electronic Publication: 2017 Oct 31.Publisher: Kluwer Academic/Plenum Publishers Country of Publication: United States NLM ID: 0126611 Publication Model: Print-Electronic Cited Medium:

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Screening Consanguineous Families for Hearing Loss Using the MiamiOtoGenes Panel.

• Authors : Kannan-Sundhari A; Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, Florida, USA.; Dr. John T. Macdonald Foundation, Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida, USA.

Subjects: Genetic Testing/Genetic Testing/Genetic Testing/*methods ; Hearing Loss/Hearing Loss/Hearing Loss/*diagnosis; Adult

• Source: Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2020 Oct; Vol. 24 (10), pp. 674-680. Date of Electronic Publication: 2020 Sep Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101494210 Publication Model: Print-Electronic Cited Medium: Internet

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[Analysis of the deafness gene screening results from newborns in Shijiazhuang].

• Authors : Feng J; Li T; Wang L

Subjects: Genetic Testing* ; Neonatal Screening*; Deafness/Deafness/Deafness/*genetics

• Source: Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery [Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi] 2015 Oct; Vol. 29 (19),Publisher: Lin chuang er bi yan hou tou jing wai ke za zhi bain ji bu Country of Publication: China NLM ID: 101303164 Publication Model: Print Cited Medium:

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Newborn genetic screening for high risk deafness-associated mutations with a new Tetra-primer ARMS PCR kit.

• Authors : Han B; Department of Otolaryngology-Head and Neck Surgery, and Institute of Otolaryngology, Chinese People's Liberation Army General Hospital, Beijing, China.; Zong L

Subjects: Genetic Predisposition to Disease*; Anion Transport Proteins/Anion Transport Proteins/Anion Transport Proteins/*genetics ; Connexins/Connexins/Connexins/*genetics

• Source: International journal of pediatric otorhinolaryngology [Int J Pediatr Otorhinolaryngol] 2013 Sep; Vol. 77 (9), pp. 1440-5. Date of Electronic Publication: 2013 Jun 29.Publisher: Elsevier Scientific Publishers Country of Publication: Ireland NLM ID: 8003603 Publication Model: Print-Electronic Cited Medium: Internet

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Genetic testing in the acute setting: a round table discussion.

• Authors : McDermott JH; Manchester Centre for Genomic, Manchester University NHS Foundation Trust, Manchester, UK .

Subjects: Hearing Loss*/Hearing Loss*/Hearing Loss*/chemically induced ; Hearing Loss*/Hearing Loss*/Hearing Loss*/genetics ; Point-of-Care Testing*

• Source: Journal of medical ethics [J Med Ethics] 2020 Aug; Vol. 46 (8), pp. 531-532. Date of Electronic Publication: 2020 Jul 10.Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 7513619 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs.

• Authors : DiStefano MT; ClinGen Hearing Loss Clinical Domain Working Group

Subjects: Deafness/Deafness/Deafness/*genetics ; Genetic Testing/Genetic Testing/Genetic Testing/*methods ; Hearing Loss/Hearing Loss/Hearing Loss/*genetics

• Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Oct; Vol. 21 (10), pp. 2239-2247. Date of Electronic Publication: 2019 Mar 21.Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Precision assessment of public attitudes toward genetic testing.

• Authors : Shen J; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.; Laboratory for Molecular Medicine, Partners Health Care Personalized Medicine, Cambridge, Massachusetts.

Subjects: Public Opinion*; Deafness/Deafness/Deafness/*epidemiology ; Genetic Counseling/Genetic Counseling/Genetic Counseling/*trends

• Source: American journal of medical genetics. Part A [Am J Med Genet A] 2016 Dec; Vol. 170 (12), pp. 3185-3188. Date of Electronic Publication: 2016 Aug 19.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Do parental perceptions and motivations towards genetic testing and prenatal diagnosis for deafness vary in different cultures?

• Authors : Nahar R; Centre of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.; Puri RD

Subjects: Culture* ; Genetic Testing* ; Prenatal Diagnosis*

• Source: American journal of medical genetics. Part A [Am J Med Genet A] 2013 Jan; Vol. 161A (1), pp. 76-81. Date of Electronic Publication: 2012 Dec 03.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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[Study of generational risk in deafness inflicted couples using deafness gene microarray technique].

• Authors : Wang P; Department of Otorhinolaryngology Head and Neck Surgery, First Hospital of Jilin University, Changchun 130021, China.; Zhao J

Subjects: Oligonucleotide Array Sequence Analysis*; Deafness/Deafness/Deafness/*genetics ; Deafness/Deafness/Deafness/*prevention & control

• Source: Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery [Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi] 2011 Jun; Vol. 46 (6), pp. Publisher: Zhonghua yi xue hui za zhi she Country of Publication: China NLM ID: 101247574 Publication Model: Print Cited Medium: Print ISSN:

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Hereditary deafness carrier screening in 9,993 Chinese individuals.

• Authors : Yanqiu Liu; Lei Wang; Lanlai Yuan

Subjects: MEDICAL screening; DEAFNESS; GENETIC testingCHINA

• Source: Frontiers in Genetics; 2024, p1-7, 7p

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Genetic screening of common genetic deafness in 60,391 women of childbearing age and intervention of birth defects.

• Authors : Linyuan Niu; Liqin Liu; Jinjun Tian

Subjects: GENETIC testing; CHILDBEARING age; DEAFNESS

• Source: Archives of Medical Science; Jan2024, Vol. 20 Issue 1, p113-123, 11p

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Prevalence of GJB2 causing recessive profound non-syndromic deafness in Japanese children.

• Authors : Hayashi C; Department of Otorhinolaryngology, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, Tokyo 113-8421, Japan. ; Funayama M

Subjects: Point Mutation*; Connexins/Connexins/Connexins/*genetics ; Deafness/Deafness/Deafness/*epidemiology

• Source: International journal of pediatric otorhinolaryngology [Int J Pediatr Otorhinolaryngol] 2011 Feb; Vol. 75 (2), pp. 211-4. Date of Electronic Publication: 2010 Nov 26.Publisher: Elsevier Scientific Publishers Country of Publication: Ireland NLM ID: 8003603 Publication Model: Print-Electronic Cited Medium: Internet

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Nationwide population genetic screening improves outcomes of newborn screening for hearing loss in China.

• Authors : Wang Q; Department of Otolaryngology-Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China.; Xiang J

Subjects: Genetic Testing/Genetic Testing/Genetic Testing/*methods ; Hearing Loss/Hearing Loss/Hearing Loss/*genetics ; Neonatal Screening/Neonatal Screening/Neonatal Screening/*methods

• Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Oct; Vol. 21 (10), pp. 2231-2238. Date of Electronic Publication: 2019 Mar 20.Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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A low-cost exon capture method suitable for large-scale screening of genetic deafness by the massively-parallel sequencing approach.

• Authors : Tang W; Department of Otolaryngology, Emory University School of Medicine, Atlanta, Georgia 30322, USA.; Qian D

Subjects: Gene Targeting*; Deafness/Deafness/Deafness/*genetics ; Genetic Testing/Genetic Testing/Genetic Testing/*economics

• Source: Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2012 Jun; Vol. 16 (6), pp. 536-42. Date of Electronic Publication: 2012 Apr 05.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101494210 Publication Model: Print-Electronic Cited Medium: Internet

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Efficiency of microarray and SNPscan for the detection of hearing loss gene in 71 cases with nonsyndromic hearing loss.

• Authors : Han R; Prenatal Diagnosis Center Department of Otolaryngology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, China.; Li L

Subjects: DNA Mutational Analysis* ; Genetic Testing* ; Microarray Analysis* Nonsyndromic Deafness

• Source: Medicine [Medicine (Baltimore)] 2017 Jun; Vol. 96 (25), pp. e7149.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN:

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Parental attitudes toward genetic testing for prelingual deafness in China.

• Authors : Fu S; Department of Medical Genetics, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.; Dong J

Subjects: Genetic Testing*/Genetic Testing*/Genetic Testing*/psychology ; Health Knowledge, Attitudes, Practice*; Deafness/Deafness/Deafness/*diagnosis

• Source: International journal of pediatric otorhinolaryngology [Int J Pediatr Otorhinolaryngol] 2010 Oct; Vol. 74 (10), pp. 1122-5. Date of Electronic Publication: 2010 Jul 15.Publisher: Elsevier Scientific Publishers Country of Publication: Ireland NLM ID: 8003603 Publication Model: Print-Electronic Cited Medium: Internet

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Genetic selection for deafness: the views of hearing children of deaf adults.

• Authors : Mand C; Bruce Lefroy Centre for Genetic Health Research, Royal Children's Hospital, Parkville, 3052, Victoria, Australia.; Duncan RE

Subjects: Attitude to Health*; Deafness/Deafness/Deafness/*genetics ; Genetic Testing/Genetic Testing/Genetic Testing/*psychology

• Source: Journal of medical ethics [J Med Ethics] 2009 Dec; Vol. 35 (12), pp. 722-8.Publisher: BMJ Publishing Group Country of Publication: England NLM ID: 7513619 Publication Model: Print Cited Medium: Internet ISSN: 1473-4257

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Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness.

• Authors : Dai P; Department of Otolaryngology, Chinese PLA General Hospital, Beijing, China.; Liu X

Subjects: Deafness/Deafness/Deafness/*epidemiology ; Deafness/Deafness/Deafness/*genetics ; Genetic Testing/Genetic Testing/Genetic Testing/*methods

• Source: Biochemical and biophysical research communications [Biochem Biophys Res Commun] 2006 Feb 03; Vol. 340 (1), pp. 194-9.Publisher: Elsevier Country of Publication: United States NLM ID: 0372516 Publication Model: Print Cited Medium: Print ISSN: 0006-291X (Print)

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Application of deafness diagnostic screening panel based on deafness mutation/gene database using invader assay.

• Authors : Abe S; Division of Advanced Technology and Development, BML, Inc., Kawagoe-shi, Saitama 350-1101, Japan.; Yamaguchi T

Subjects: DNA Mutational Analysis/DNA Mutational Analysis/DNA Mutational Analysis/*methods ; Deafness/Deafness/Deafness/*diagnosis ; Genetic Testing/Genetic Testing/Genetic Testing/*methods

• Source: Genetic testing [Genet Test] 2007 Fall; Vol. 11 (3), pp. 333-40.Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 9802546 Publication Model: Print Cited Medium: Print ISSN:

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[Attitudes towards prenatal diagnosis of deafness among parents to children with cochlear implants].

• Authors : Thorsen A; Arhus Universitetshospital, Arhus Sygehus, Øre-, naese- og halskirurgisk Afdeling.; Devantier L

Subjects: Cochlear Implantation* ; Genetic Testing* ; Prenatal Diagnosis*

• Source: Ugeskrift for laeger [Ugeskr Laeger] 2009 Apr 20; Vol. 171 (17), pp. 1387-91.Publisher: Den Alm Danske Laegerforening Country of Publication: Denmark NLM ID: 0141730 Publication Model: Print Cited Medium: Internet ISSN:

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A rapid method for detection of five known mutations associated with aminoglycoside-induced deafness.

• Authors : Bardien S; Division of Molecular Biology and Human Genetics, Stellenbosch University, Cape Town, South Africa. ; Human H

Subjects: Mutation*; Aminoglycosides/Aminoglycosides/Aminoglycosides/*adverse effects ; Antitubercular Agents/Antitubercular Agents/Antitubercular Agents/*adverse effects

• Source: BMC medical genetics [BMC Med Genet] 2009 Jan 13; Vol. 10, pp. 2. Date of Electronic Publication: 2009 Jan 13.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Parental perspective of the benefits of genetic testing in children with congenital deafness.

• Authors : Geelhoed EA; Population Health, University of Western Australia, Nedlands, W.A., Australia.; Harrison K

Subjects: Deafness/Deafness/Deafness/*genetics ; Genetic Testing/Genetic Testing/Genetic Testing/*psychology ; Parents/Parents/Parents/*psychology

• Source: Public health genomics [Public Health Genomics] 2009; Vol. 12 (4), pp. 245-50. Date of Electronic Publication: 2009 Feb 20.Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101474167 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Education Full Text (H.W. Wilson)

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Genetic epidemiological studies of congenital/prelingual deafness in Turkey: population structure and mating type are major determinants of mutation identification.

• Authors : Tekin M; Division of Clinical Molecular Pathology and Genetics, Department of Pediatrics, Ankara University School of Medicine, Ankara, Turkey. ; Arici ZS

Subjects: Genetic Testing* ; Mutation*; Deafness/Deafness/Deafness/*epidemiology

• Source: American journal of medical genetics. Part A [Am J Med Genet A] 2007 Jul 15; Vol. 143A (14), pp. 1583-91.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Print ISSN: 1552-4825

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Molecular genetics study of deafness in Brazil: 8-year experience.

• Authors : de Oliveira CA; Centro de Biologia Molecular e Engenharia Genética/CBMEG, Laboratório de Genética Humana, Universidade Estadual de Campinas (UNICAMP), Campinas, São Paulo, Brazil.; Alexandrino F

Subjects: Genetic Testing* ; Mutation*; Deafness/Deafness/Deafness/*diagnosis

• Source: American journal of medical genetics. Part A [Am J Med Genet A] 2007 Jul 15; Vol. 143A (14), pp. 1574-9.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print Cited Medium: Print ISSN: 1552-4825

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Addressing the challenges of genetic screening for deafness.

• Authors : Martin TP; Morgan NV; McKeown C

Subjects: Genetic Testing*; Deafness/Deafness/Deafness/*genetics; Consanguinity

• Source: Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery [Clin Otolaryngol] 2007 Jun; Vol. 32 (3),Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 101247023 Publication Model: Print Cited Medium: Print ISSN:

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The responsible genes in Japanese deafness patients and clinical application using Invader assay.

• Authors : Usami S; Department of Otorhinolaryngology, Shinshu University School of Medicine, Asahi, Matsumoto, Japan. ; Wagatsuma M

Subjects: Mutation*; Cadherins/Cadherins/Cadherins/*genetics ; Connexins/Connexins/Connexins/*genetics

• Source: Acta oto-laryngologica [Acta Otolaryngol] 2008 Apr; Vol. 128 (4), pp. 446-54.Publisher: Taylor & Francis Country of Publication: England NLM ID: 0370354 Publication Model: Print Cited Medium: Print ISSN: 0001-6489 (Print)

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