Results 151 to 160 of about 825,443 (336)

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Descending aorta to right atrial fistula: Transcatheter embolization of a very rare anomaly with coils

Clinical Case Reports
Key Clinical Message Descending aorta to right atrial (RA) fistula is a rare and distinct clinical entity mimicking patent ductus arteriosus (PDA) and it may lead to rapid development of pulmonary vascular disease.
Stefanos Despotopoulos, Sotiria Apostolopoulou, George Vagenakis, Meletios Kanakis, George Samanidis, Panagiotis Zachos, Anastasios Chatziantoniou, John Papagiannis, Spyridon Rammos, Alexandros Tsoutsinos   +9 more
doaj   +1 more source

Maternal exposure to air pollution and congenital heart diseases in Henan, China: A register-based case-control study

, 2021
Huanhuan Zhang, Xiaoan Zhang, Xin Zhao, Guomei Cheng, Hui Chang, Xiaofang Ye, Jingzhe Wang, Zengli Yu, Qiong Wang, Cunrui Huang   +9 more
openalex   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Congenital protein hypoglycosylation diseases

The Application of Clinical Genetics, 2012
Glycosylation is an essential process by which sugars are attached to proteins and lipids. Complete lack of glycosylation is not compatible with life. Because of the widespread function of glycosylation, inherited disorders of glycosylation are multisystemic. Since the identification of the first defect on N-linked glycosylation in the 1980s, there are
openaire   +4 more sources

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein, Alexandra Inman, Sanjiv Bhalla, Jianghong An, Jan M. Friedman, Rosanna Weksberg, Cornelius Boerkoel, Steven J. M. Jones, William T. Gibson   +10 more
wiley   +1 more source

CONGENITAL HEART DISEASE [PDF]

BMJ, 1935
D C, Muir, J W, Brown
openaire   +2 more sources

Variants in AKR1D1 and Infant Mortality: Should Bile Acid Screening be a Routine Part of Newborn Screening?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in AKR1D1 cause Δ4‐3‐oxosteroid 5β‐reductase deficiency, disrupt bile acid synthesis, and result in Congenital Bile Acid Synthesis defect type 2 (CBAS2). CBAS2 presents in infancy with cholestasis, coagulopathy, and failure to thrive.
Jade Hudson, Stephanie Hyunh, Bojana Rakic, Cornelius Boerkoel   +3 more
wiley   +1 more source

Contact force sensing radiofrequency catheter ablation guided by electroanatomic mapping in pediatric patients with permanent junctional reciprocating tachycardia: A case series

Journal of Arrhythmia, 2023
Giovanni Domenico Ciriello, Diego Colonna, Emanuele Romeo, Maria Giovanna Russo, Berardo Sarubbi   +4 more
doaj   +1 more source

Vaccine Mediated Protection Against Zika Virus-Induced Congenital Disease. [PDF]

Cell, 2017
Richner JM, Jagger BW, Shan C, Fontes CR, Dowd KA, Cao B, Himansu S, Caine EA, Nunes BTD, Medeiros DBA, Muruato AE, Foreman BM, Luo H, Wang T, Barrett AD, Weaver SC, Vasconcelos PFC, Rossi SL, Ciaramella G, Mysorekar IU, Pierson TC, Shi PY, Diamond MS.   +22 more
europepmc   +1 more source