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Publisher : wiley-blackwell Subject : diagnosis Subject : genetic testing

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Academic Journal

The clinical and genetic characteristics of maternally inherited diabetes and deafness (MIDD) with mitochondrial m.3243A > G mutation: A 10‐year follow‐up observation study and literature review.

Authors : Zheng, Shasha; Wang, Juanjuan; Sun, Minxian

Subjects: LITERATURE reviews; DEAFNESS; MITOCHONDRIAL DNA

Source: Clinical Case Reports; Feb2024, Vol. 12 Issue 2, p1-9, 9p

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Academic Journal

Failure to detect deaf-blindness in a population of people with intellectual disability.

Authors : Fellinger, J.; Holzinger, D.; Dirmhirn, A.

Subjects: COGNITION disorders; DEAFNESS; BLINDNESS

Source: Journal of Intellectual Disability Research. Oct2009, Vol. 53 Issue 10, p874-881. 8p. 3 Charts.

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Academic Journal

Coexistence of Unverricht-Lundborg disease and congenital deafness: Molecular resolution of a complex comorbidity.

Authors : Kecmanović, Miljana; Ristić, Aleksandar J.; Sokić, Dragoslav

Subjects: DEAFNESS; EPILEPSY; AMINO acids

Source: Epilepsia (Series 4). Jun2009, Vol. 50 Issue 6, p1612-1615. 4p.

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Academic Journal

A novel pathogenic variant of NEFL responsible for deafness associated with peripheral neuropathy discovered through next‐generation sequencing and review of the literature.

Authors : Lerat, Justine; Magdelaine, Corinne; Beauvais‐Dzugan, Hélène

Subjects: CHARCOT-Marie-Tooth disease; GENETICS of deafness; GENETIC polymorphisms

Source: Journal of the Peripheral Nervous System. Mar2019, Vol. 24 Issue 1, p139-144. 6p.

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Academic Journal

Risk factors and management strategies of inadvertent facial nerve stimulation in cochlear implant recipients: A systematic review.

Authors : Alahmadi, Asma; Abdelsamad, Yassin; Yousef, Medhat

Subjects: NEURAL stimulation; FACIAL nerve; COCHLEAR implantsWORLD Health Organization

Source: Laryngoscope Investigative Otolaryngology; Oct2023, Vol. 8 Issue 5, p1345-1356, 12p

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Academic Journal

Meningitis as a consequence of otitis media in a child referred from the newborn hearing screening programme: A missed opportunity.

Authors : Matarazzo, Lorenza¹; Ventura, Alessandro^1,2; Barbi, Egidio^1,2

Subjects: *DEAFNESS; *INFANTS; *PNEUMOCOCCAL meningitis

Source: Journal of Paediatrics & Child Health. Jul2018, Vol. 54 Issue 7, p810-812. 3p. 1 Diagram, 1 Chart.

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Academic Journal

Whole‐exome sequencing identifies rare pathogenic and candidate variants in sporadic Chinese Han deaf patients.

Authors : Zou, Songfeng; Mei, Xueshuang; Yang, Weiqiang

Subjects: GENETIC testing; NUCLEOTIDE sequencing; DEAFNESS

Source: Clinical Genetics; Feb2020, Vol. 97 Issue 2, p352-356, 5p, 1 Chart

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Academic Journal

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

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Academic Journal

Deafness and vestibular dysfunction in a Doberman Pinscher puppy associated with a mutation in the PTPRQ gene.

Authors : Guevar, Julien; Olby, Natasha J.; Meurs, Kathryn M.

Subjects: VESTIBULAR apparatus diseases; DEAFNESS prevention; DOBERMAN pinscher

Source: Journal of Veterinary Internal Medicine; Mar2018, Vol. 32 Issue 2, p665-669, 5p

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Academic Journal

Identifying at diagnosis the vestibular schwannomas at low risk of growth in a long-term retrospective cohort.

Authors : Wolbers, J.G.¹ ; Dallenga, A.H.G.¹; Linge, A.²

Subjects: *SCHWANNOMAS; *DEAFNESS; *VERTIGO

Source: Clinical Otolaryngology. Dec2016, Vol. 41 Issue 6, p788-792. 5p.

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