Search Results

The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling.

• Authors : Bouassida M; Genetics Department, CHI de Poissy-St Germain en Laye, Poissy, France.; Molina-Gomes D

Subjects: Genetic Counseling* ; Chromosome Aberrations*; Pregnancy

• Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Apr; Vol. 12 (4), pp. e2437.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN:

Record details

Effects of an animated educational video on knowledge of cell-free DNA screening among Thai pregnant women: a randomized control trial.

• Authors : Nintao N; Department of Obstetrics & Gynaecology, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.; Manonai J

Subjects: Pregnant Women* ; Genetic Counseling*; Female

• Source: BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2023 Dec 11; Vol. 23 (1), pp. 853. Date of Electronic Publication: 2023 Dec 11.Publisher: BioMed Central Country of Publication: England NLM ID: 100967799 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2393

Record details

Personalising genetic counselling (POETIC) trial: Protocol for a hybrid type II effectiveness-implementation randomised clinical trial of a patient screening tool to improve patient empowerment after cancer genetic counselling.

• Authors : Forrest LE; Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre, Locked Bag 1, A'Beckett St, Melbourne, Victoria, 3008, Australia. .; Parkville Familial Cancer Centre & Genomic Medicine, Royal Melbourne Hospital, Parkville, Victoria, Australia. .

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

• Source: Trials [Trials] 2023 Nov 08; Vol. 24 (1), pp. 712. Date of Electronic Publication: 2023 Nov 08.Publisher: BioMed Central Country of Publication: England NLM ID: 101263253 Publication Model: Electronic Cited Medium: Internet ISSN: 1745-6215

Record details

The effect of ascertainment on penetrance estimates for rare variants: Implications for establishing pathogenicity and for genetic counselling.

• Authors : Paterson AD; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.; Divisions of Epidemiology and Biostatistics, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.

Subjects: Genetic Counseling* ; High-Throughput Nucleotide Sequencing*; Penetrance

• Source: PloS one [PLoS One] 2023 Sep 21; Vol. 18 (9), pp. e0290336. Date of Electronic Publication: 2023 Sep 21 (Print Publication: 2023).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

Record details

Hemoglobin C Disorder in Anemic Patients Referred to the National Center for Thalassemia and Genetic Counseling in Damascus.

• Authors : Ahmad, Aya¹; Fattoum, Karam¹; Imam, Wael¹

• Source: International Journal of Hematology-Oncology & Stem Cell Research. Apr2024, Vol. 18 Issue 2, p183-191. 9p.

Record details

De novo variants of IRF2BPL result in developmental epileptic disorder.

• Authors : Wang, Yong¹ (AUTHOR) ; Ke, Zhongling¹ (AUTHOR); Li, Yufen² (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 3/13/2024, Vol. 19 Issue 1, p1-9. 9p.

Record details

Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa.

• Authors : Al Yaarubi, Saif¹ (AUTHOR) ; Alsagheir, Afaf² (AUTHOR); Al Shidhani, Azza³ (AUTHOR)

• Source: Orphanet Journal of Rare Diseases. 3/13/2024, Vol. 19 Issue 1, p1-15. 15p.

Record details

Identified PAH V230A and PAH V230I mutations in a family with diverse clinical presentations.

• Authors : Khaghani, Faeze^1,2 (AUTHOR); Eshraghi, Peyman³ (AUTHOR); Hamzehloei, Tayebeh^2,4 (AUTHOR)

• Source: Clinical Case Reports. Mar2024, Vol. 12 Issue 3, p1-7. 7p.

Record details

Novel homozygous mutations in TXNDC15 causing Meckel syndrome.

• Authors : Deng, Tianqin¹ (AUTHOR) ; Xie, Yuli² (AUTHOR)

• Source: Molecular Genetics & Genomic Medicine. Mar2024, Vol. 12 Issue 3, p1-5. 5p.

Record details

Genetic screening in a Brazilian cohort with inborn errors of immunity.

• Authors : Ferreira CS; Bioinformatics Laboratory-LABINFO, National Laboratory of Scientific Computation LNCC/MCTIC, Av. Getúlio Vargas, 333, Quitandinha CEP: 25651-075, Petrópolis, Rio de Janeiro, Brazil.; Francisco Junior RDS

Subjects: Genetic Counseling* ; Genetic Testing*; Brazil/Brazil/Brazil/epidemiology

• Source: BMC genomic data [BMC Genom Data] 2023 Aug 17; Vol. 24 (1), pp. 47. Date of Electronic Publication: 2023 Aug 17.Publisher: BioMed Central Country of Publication: England NLM ID: 101775394 Publication Model: Electronic Cited Medium: Internet ISSN: 2730-6844

Record details