Results 121 to 130 of about 869,874 (249)

Analysis of results of treatment without-of-spine-based implants in patients with multiple congenital anomalies of the spine and thorax

, 2017
Sergei V. Vissarionov, Nikita Olegovich Husainov, D.N. Kokushin   +2 more
openalex   +2 more sources

Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit, L. Kerbellec, D. Laurenceau, D. C. Ung, M. P. Moizard, N. Ronce, P. Gueguen, F. Laumonnier, A. C. Bréhin, F. Marguet, A. Laquerrière, A. M. Bergemer Fouquet, J. Cirier, S. Blesson, S. Arpin, M. Jeanne, M. L. Vuillaume   +16 more
wiley   +1 more source

Study of association of family history and consanguinity with congenital hearing loss

, 2016
B H Shrikrishna, G Deepa
openalex   +2 more sources

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

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

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

In utero exposure to medications and congenital eye anomalies. [PDF]

BMJ Open Ophthalmol
Mairesse R, Lepetit M, Dubucs C, Cifuentes EA, Damase-Michel C, Lacroix I.   +5 more
europepmc   +1 more source

1762 CONGENITAL DIAPHRAGMATIC HERNIA- CONTRIBUTION OF PULMONARY ARTERIAL REMODELLING TO PERSISTENT PULMONARY HYPERTENSION [PDF]

, 1985
Robert L. Geggel, John P. Murphy, David Langleben, Lynne Reid, Thomas J. Hougen   +4 more
openalex   +1 more source

Congenital nerve sheath tumor in a dog. [PDF]

J Vet Diagn Invest
Cole J, Schaffer PA, Kirk NM.
europepmc   +1 more source

Predictors of high maintenance prostaglandin E1 doses in neonates with critical congenital heart disease-ductal-dependent pulmonary circulation during preoperative care [PDF]

Fonthip Naiyananon, Supaporn Dissaneevate, Anucha Thatrimontrichai, Waricha Janjindamai, Gunlawadee Maneenil, Manapat Praditaukrit, Supaporn Roymanee, Voravit Chittithavorn, Alan Geater   +8 more
openalex   +1 more source