Results 101 to 110 of about 2,167,838 (317)

Impact of maternal hepatitis B carrier status on congenital abnormalities: a systematic review and meta-analysis. [PDF]

BMJ Open, 2023
Huang S, Wang J, Xiong Y, Liu C, Qi Y, Zou K, Tan J, Sun X.   +7 more
europepmc   +1 more source

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

Congenital Abnormalities [PDF]

Nature, 1963
  +4 more sources

Congenital Malformation Prevalence in Cluj District between 2003-2007 [PDF]

Applied Medical Informatics, 2009
Introduction: Congenital anomalies represent a significant cause of premature birth, of child morbidity and mortality. From 200000 new born per year, over 10000 presented malformations. Epidemiologic studies have shown that the incidence of malformations
Ştefan I. ŢIGAN, Tudor MÎRZA, Rodica RADU, Anamaria MOLNAR   +3 more
doaj  

DIO3 protects against thyrotoxicosis-derived cranio-encephalic and cardiac congenital abnormalities. [PDF]

JCI Insight, 2022
Martinez ME, Pinz I, Preda M, Norton CR, Gridley T, Hernandez A.   +5 more
europepmc   +1 more source

Reduced fetal cerebral oxygen consumption is associated with abnormal white matter in newborns with congenital heart disease [PDF]

, 2015
Prakash Muthusami, Sujana Madathil, Susan Blasér, Edgar Jaeggi, Lars Grosse‐Wortmann, Shi‐Joon Yoo, John‏ Kingdom, Edward Hickey, John G. Sled, Christopher K. Macgowan, Steven P. Miller, Mike Seed   +11 more
openalex   +1 more source

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

Multiple Congenital Abnormalities [PDF]

Proceedings of the Royal Society of Medicine, 1948
openaire   +2 more sources

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

Beyond the Syndrome: Extensive Congenital Abnormalities in an Infant With Trisomy 21. [PDF]

Clin Pathol, 2022
Ward JD, Sharma MS, Pizzuto MF, Moylan VJ, Askin FB, Kaufman DG.   +5 more
europepmc   +1 more source