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Academic Journal

Novel frameshift variants expand the map of the genetic defects in IRF2BP2.

Subjects: Frameshift Mutation* ; Genetic Testing*; Humans

  • Source: Frontiers in immunology [Front Immunol] 2023 Oct 09; Vol. 14, pp. 1279171. Date of Electronic Publication: 2023 Oct 09 (Print Publication: 2023).Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

Genetic counseling and genetic testing for pathogenic germline mutations among high-risk patients previously diagnosed with breast cancer: a traceback approach.

  • Authors : Abdel-Razeq H; Department of Internal Medicine, King Hussein Cancer Center, 202 Queen Rania Al Abdullah Street, P.O. Box: 1269, Amman, 11941, Jordan. .; School of Medicine, The University of Jordan, Amman, Jordan. .

Subjects: Breast Neoplasms*/Breast Neoplasms*/Breast Neoplasms*/genetics ; Breast Neoplasms*/Breast Neoplasms*/Breast Neoplasms*/diagnosis ; Genetic Counseling*

  • Source: Scientific reports [Sci Rep] 2024 Jun 04; Vol. 14 (1), pp. 12820. Date of Electronic Publication: 2024 Jun 04.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes and RFX6 in Children with Autoantibody-negative Type 1 Diabetes Mellitus

  • Authors : Şimşek E; Eskişehir Osmangazi University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology, Eskişehir, Turkey; The Health Ministry of Turkish Republic, Ankara Training and Research Hospital, Clinic of Pediatrics, Ankara, Turkey

Subjects: Mutation* ; Diabetes Mellitus, Type 1*/Diabetes Mellitus, Type 1*/Diabetes Mellitus, Type 1*/genetics ; Diabetes Mellitus, Type 1*/Diabetes Mellitus, Type 1*/Diabetes Mellitus, Type 1*/diagnosis Mason-Type Diabetes

  • Source: Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2024 May 31; Vol. 16 (2), pp. 137-145. Date of Electronic Publication: 2023 Dec 06.Publisher: Galenos Yayınevi Country of Publication: Turkey NLM ID: 101519456 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Implementation of Universal Pan-Cancer Germline Genetic Testing in an Arab Population: The Jordanian Exploratory Cancer Genetics Study.

  • Authors : Abdel-Razeq H; King Hussein Cancer Center, Amman, Jordan.; School of Medicine, The University of Jordan, Amman, Jordan.

Subjects: Genetic Testing*/Genetic Testing*/Genetic Testing*/methods ; Germ-Line Mutation* ; Neoplasms*/Neoplasms*/Neoplasms*/genetics

  • Source: JCO global oncology [JCO Glob Oncol] 2024 Jun; Vol. 10, pp. e2400068.Publisher: American Society of Clinical Oncology Country of Publication: United States NLM ID: 101760170 Publication Model: Print Cited Medium: Internet

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Academic Journal

Germline Predisposition in Hematologic Malignancies: Testing, Management, and Implications.

  • Authors : Godley LA; Robert H. Lurie Comprehensive Cancer Center, Division of Hematology/Oncology, Northwestern University, Chicago, IL.; DiNardo CD

Subjects: Hematologic Neoplasms*/Hematologic Neoplasms*/Hematologic Neoplasms*/genetics ; Hematologic Neoplasms*/Hematologic Neoplasms*/Hematologic Neoplasms*/therapy ; Hematologic Neoplasms*/Hematologic Neoplasms*/Hematologic Neoplasms*/diagnosis

  • Source: American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual Meeting [Am Soc Clin Oncol Educ Book] 2024 Jun; Vol. 44 (3), pp. e432218.Publisher: American Society of Clinical Oncology Country of Publication: United States NLM ID: 101233985 Publication Model: Print Cited Medium: Internet

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Academic Journal

Mainstream Model of Genetic Testing for Prostate Cancer at a Large Tertiary Cancer Centre.

  • Authors : Wang X; Department of Medical Oncology, Princess Margaret Cancer Centre, Toronto, Ontario, Canada; Department of Medical Oncology, Sunnybrook Odette Cancer Centre, Toronto, Ontario, Canada.

Subjects: Prostatic Neoplasms*/Prostatic Neoplasms*/Prostatic Neoplasms*/genetics ; Prostatic Neoplasms*/Prostatic Neoplasms*/Prostatic Neoplasms*/pathology ; Genetic Testing*/Genetic Testing*/Genetic Testing*/methods

  • Source: Clinical genitourinary cancer [Clin Genitourin Cancer] 2024 Jun; Vol. 22 (3), pp. 102052. Date of Electronic Publication: 2024 Feb 12.Publisher: Elsevier Country of Publication: United States NLM ID: 101260955 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Genetic profile of syndromic retinitis pigmentosa in Portugal.

  • Authors : Cortinhal T; Department of Ophthalmology, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal.; Santos C

Subjects: Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/genetics ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/diagnosis ; Retinitis Pigmentosa*/Retinitis Pigmentosa*/Retinitis Pigmentosa*/epidemiology

  • Source: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie [Graefes Arch Clin Exp Ophthalmol] 2024 Jun; Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 8205248 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Clinical management of TP53 mosaic variants found on germline genetic testing.

  • Authors : Ward A; Master of Science in Genetic Counseling Program, Perelman School of Medicine, University of Pennsylvania, USA.; Farengo-Clark D

Subjects: Genetic Testing*/Genetic Testing*/Genetic Testing*/methods ; Tumor Suppressor Protein p53*/Tumor Suppressor Protein p53*/Tumor Suppressor Protein p53*/genetics ; Mosaicism*

  • Source: Cancer genetics [Cancer Genet] 2024 Jun; Vol. 284-285, pp. 43-47. Date of Electronic Publication: 2024 Apr 23.Publisher: Elsevier Country of Publication: United States NLM ID: 101539150 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Deficiencies in germline genetic testing in young-onset colorectal cancer patients.

  • Authors : Ficarino H; Department of Surgery, University of Alabama at Birmingham, Birmingham, AL, USA. Electronic address: .; Cage B

Subjects: Genetic Testing* ; Colorectal Neoplasms*/Colorectal Neoplasms*/Colorectal Neoplasms*/genetics ; Colorectal Neoplasms*/Colorectal Neoplasms*/Colorectal Neoplasms*/diagnosis

  • Source: American journal of surgery [Am J Surg] 2024 Jun; Vol. 232, pp. 126-130. Date of Electronic Publication: 2024 Jan 26.Publisher: Excerpta Medica Country of Publication: United States NLM ID: 0370473 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Men with metastatic prostate cancer carrying a pathogenic germline variant in breast cancer genes: disclosure of genetic test results to relatives.

  • Authors : Vlaming M; Department of Genetics, Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Heidelberglaan 100, CX Utrecht, 3584, The Netherlands.; Ausems MGEM

Subjects: Prostatic Neoplasms*/Prostatic Neoplasms*/Prostatic Neoplasms*/genetics ; Prostatic Neoplasms*/Prostatic Neoplasms*/Prostatic Neoplasms*/psychology ; Prostatic Neoplasms*/Prostatic Neoplasms*/Prostatic Neoplasms*/pathology

  • Source: Familial cancer [Fam Cancer] 2024 Jun; Vol. 23 (2), pp. 165-175. Date of Electronic Publication: 2024 May 09.Publisher: Springer Country of Publication: Netherlands NLM ID: 100898211 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  21,570 results for ""Mutation""