Results 191 to 200 of about 2,203,451 (295)

Molecular characterization of FAM222B as a novel disease gene for dominant cardiovascular laterality defects. [PDF]

Sci Rep
Reitz N, Lambertz J, Yilmaz Ö, Lindenberg TT, Channab K, Rau B, Ramrath S, Mingardo E, Schöpper H, Kirchmaier BC, Geyer M, Dworschak GC, Breuer J, Müller N, Schaidinger B, Hilger AC, Hoefele J, Riedhammer KM, Hitz MP, Dombrowsky G, Abdul-Khaliq H, Bauer UMM, Fester L, Reutter HM, Breuer K, Odermatt B.   +25 more
europepmc   +1 more source

Congenital Heart Defects [PDF]

Insights in Biomedicine, 2019
openaire   +1 more source

Genetic Spectrum of Non‐PTPN11 Variants in Noonan Syndrome and Related RASopathies: Findings From a Russian Cohort

Clinical Genetics, EarlyView.
Noonan syndrome and related conditions are caused by variants in multiple genes. We analyzed 456 Russian patients using a 23‐gene panel and found disease‐causing variants in non‐PTPN11 genes in 85 cases. NF1, SOS1, BRAF, and SHOC2 explained half of these diagnoses.
Anna Orlova, Olga Shatokhina, Daria Guseva, Nina Demina, Aleksander Polyakov, Oхana Ryzkova   +5 more
wiley   +1 more source

Congenital heart defects: familial recurrence patterns in Sweden. [PDF]

Eur Heart J
Kazamia K, Ekberg S, Dietrich CE, Eliasson H, Wahren-Herlenius M, Bergman G.   +5 more
europepmc   +1 more source

Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita

Clinical Genetics, EarlyView.
We report on two individuals with arthrogryposis multiplex congenita who were heterozygous for ACTC1 missense variants (NM_005159.5; c.325G>A, p.Glu109Lys and c.650A>C, p.Lys217Thr) and provide a characterization of these variants through in vitro studies.
Lauren Kerr, Pierre Moffatt, Lauren Hyer, Sarah Nossov, Noémi Dahan‐Oliel, Frank Rauch   +5 more
wiley   +1 more source

CONGENITAL HEART DEFECTS

Journal of the American College of Cardiology, 2017
openaire   +2 more sources

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border

Clinical Genetics, EarlyView.
Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart, Michelle Gray, Roberta Sierra, Camille Maldonado, Daniel Brooks, Hongzheng Dai, Aaly Rahimtoola, Sandy Magallan, Sarah Rodriguez, Jose Gamez, Pattie Rosenlund, Surya N. Mulukutla, Alberto Allegre, Lori Berry, Brendan Lee, Daryl A. Scott, Blake Vuocolo, Seema R. Lalani   +17 more
wiley   +1 more source

Congenital heart defects genetic architecture in a small cohort: an integrated approach to prioritizing variants. [PDF]

Front Cardiovasc Med
Korobeinikova AV, Petriaikina ES, Tychinin DI, Yudin VS, Bulaeva NI, Gyulmamedova SM, Khugaev GA, Sukhacheva TV, Snigir EA, Mitrofanov SI, Rumyantseva AM, Svetlichnyy DV, Yudin SM, Golukhova EZ, Skvortsova VI.   +14 more
europepmc   +1 more source

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1

Clinical Genetics, EarlyView.
Integrating trio‐based genomic sequencing with detailed clinical evaluation across seven French–Vietnamese heterotaxy cases alongside a review of 108 published patients reveals strong genotype–phenotype correlations. Variants in DNAH9, PKD1L1, MMP21, and GDF1 define a broad spectrum from isolated situs inversus to complex conotruncal heart defects and ...
Thi Bich Tuyen Ho, Alicia Coudert, Thi Thuy Hang Do, Thi Thanh Thuy Le, Marjolaine Gauthier, Charlotte Dubucs, Jeremie Mortreux, Pauline Monin, Nicolas Chatron, Françoise Devillard, Charles Coutton, Véronique Satre, Radu Harbuz, William Dufour, Louis Januel, Tristan Celse, Clara Paris, Auragen Consortium, Le Tuyet Mai Tran, Huu Tung Trinh, Pierre‐Simon Jouk, Ba Luu Truong, Thi Kim Nhi Nguyen, Julien Thevenon   +23 more
wiley   +1 more source

A Systematic Review of Modeling Platforms for Atrioventricular Valves in Atrioventricular Septal Defects. [PDF]

J Cardiovasc Transl Res
Wang CC, Marx M, Barth E, D'Amore A, Luo H, Coyan G.   +5 more
europepmc   +1 more source