نتائج البحث

Clinical utility of combined preimplantation genetic testing methods in couples at risk of passing on beta thalassemia/hemoglobin E disease: A retrospective review from a single center

• Authors : Wicharn Choktanasiri; Objoon Trachoo; Chonthicha Satirapod

Subjects: Oncology; Male; Embryology

• Source: PLoS ONEPLoS ONE, Vol 14, Iss 11, p e0225457 (2019)

تفاصيل العنوان

Population-based germline breast cancer gene association studies and meta-analysis to inform wider mainstream testing

• Authors : Allen, S; Balmaña, J; Domchek, S M

Subjects: Ataxia Telangiectasia Mutated Proteins/genetics; BRCA1 Protein/genetics; BRCA2 Protein/genetics

• Source: Allen , S , Balmaña , J , Domchek , S M , Evans , D G , Hoogerbrugge , N , Nathanson , K L , Tischkowitz , M , Foulkes , W D & Turnbull , C 2024 , ' Population-based germline breast cancer gene

تفاصيل العنوان

Reporting of somatic variants in clinical cancer care: recommendations of the Swiss Society of Molecular Pathology.

• Authors : Christinat, Y.; Hamelin, B.; Alborelli, I.

Subjects: Humans; Consensus; Genetic Testing/methods

• Source: Virchows Archiv, vol. 485, no. 6, pp. 1033-1039

تفاصيل العنوان

Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland.

• Authors : Conti, G.M.; Vaclavik, V.; Rivolta, C.

Subjects: Humans; Retrospective Studies; Male

• Source: Ophthalmic research, vol. 67, no. 1, pp. 172-182

تفاصيل العنوان

Integration of genomic medicine to mainstream patient care within the UK National Health Service

• Authors : Karthikeyan, Anhukrisha; McKee, Shane; McKay, Gareth J

Subjects: Humans; United Kingdom; Genomics

• Source: Karthikeyan , A , McKee , S & McKay , G J 2024 , ' Integration of genomic medicine to mainstream patient care within the UK National Health Service ' , The Ulster Medical Journal , vol. 93 , no. 3 ,

تفاصيل العنوان

A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application to BRCA1 and BRCA2.

Subjects: Humans; Case-Control Studies; BRCA2 Protein/genetics

• Source: GC-HBOC Study Collaborators 2023 , ' A likelihood ratio approach for utilizing case-control data in the clinical classification of rare sequence variants: application to BRCA1 and BRCA2. ' , Human

تفاصيل العنوان

Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the MOCS2 Gene.

• Authors : Tofilo, M.; Voronova, N.; Nigmatullina, L.

Subjects: Pregnancy; Humans; Female

• Source: Genes, vol. 14, no. 3, pp. 720

تفاصيل العنوان

Preimplantation genetic testing for Neurofibromatosis type 1:more than 20 years of clinical experience

• Authors : Vernimmen, Vivian; Paulussen, Aimée D C; Dreesen, Jos C F M

Subjects: Pregnancy; Humans; Male

• Source: Vernimmen , V , Paulussen , A D C , Dreesen , J C F M , van Golde , R J , Zamani Esteki , M , Coonen , E , van Buul-van Zwet , M L , Homminga , I , Derijck , A A H A , Brandts , L , Stumpel , C T R M

تفاصيل العنوان

Thin endometrial lining:is it more prevalent in patients utilizing preimplantation genetic testing for monogenic disease (PGT-M) and related to prior hormonal contraceptive use?

• Authors : Homminga, I; Ter Meer, A F; Groen, H

Subjects: Female; Child; Infant

• Source: Homminga , I , Ter Meer , A F , Groen , H , Cantineau , A E P & Hoek , A 2023 , ' Thin endometrial lining : is it more prevalent in patients utilizing preimplantation

تفاصيل العنوان

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder:results of a prospective multicenter clinical utility study in the Netherlands

• Authors : Andriessen, Peter; van Zelst-Stams, Wendy A.G.; Vissers, Lisenka E.L.M.

Subjects: Clinical utility; Diagnostic workflow; Economic evaluation

• Source: RADICON-NL consortium , Andriessen , P , van Zelst-Stams , W A G & Vissers , L E L M 2023 , ' Rapid exome sequencing as a first-tier test in neonates with suspected

تفاصيل العنوان