Results 111 to 120 of about 2,167,838 (317)

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

Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis? [PDF]

Eur J Hum Genet, 2022
Bourgon N, Garde A, Bruel AL, Lefebvre M, Mau-Them FT, Moutton S, Sorlin A, Nambot S, Delanne J, Chevarin M, Pöe C, Thevenon J, Lehalle D, Jean-Marçais N, Kuentz P, Lambert L, El Chehadeh S, Schaefer E, Willems M, Laffargue F, Francannet C, Fradin M, Gaillard D, Blesson S, Goldenberg A, Capri Y, Sagot P, Rousseau T, Simon E, Binquet C, Ascencio ML, Duffourd Y, Philippe C, Faivre L, Vitobello A, Thauvin-Robinet C.   +35 more
europepmc   +1 more source

Infantile or hypoplastic uterus? A proposal for a modification to the ESHRE/ESGE classification of female genital tract congenital abnormalities. [PDF]

Facts Views Vis Obgyn, 2022
Küçük T, Ata B.
europepmc   +1 more source

Congenital abnormalities and arthrogryposis in newly born lambs in Al Muthanna province Iraq. Suspicion of Akabane virus infection

, 2019
Karima Akool Al-Salihi, Ahmed Hameed Al-Dabhawi   +1 more
openalex   +2 more sources

Be careful! Something went wrong on the bridge! Congenital and acquired abnormalities of the corpus callosum: A pictorial essay

, 2020
Felipe Diego Gomes Dantas
openalex   +1 more source

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

Occult intraspinal abnormalities and congenital scoliosis

Journal of Research in Medical Sciences, 2007
<font face="TimesNewRoman,Bold" size="1"><p align="left"><strong>BACKGROUND: </strong><font face="TimesNewRoman" size="2">Congenital scoliosis occurs because of either the failure of formation or the failure of segmentation ...
Mohammad Ali Erfani, Mohammad Saleh Ganjavian, Ebrahim Ameri, Hamid Namazi, Saeid Solooki   +4 more
doaj  

Congenital Abnormalities [PDF]

Proceedings of the Royal Society of Medicine, 1924
openaire   +2 more sources

A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused by Defective De Novo Phosphatidylcholine Biosynthesis [PDF]

, 2011
Satomi Mitsuhashi, Aya Ohkuma, Beril Talim, Minako Karahashi, Tomoko Koumura, Chieko Aoyama, Mana Kurihara, Rosaline C. M. Quinlivan, Caroline A. Sewry, Hiroaki Mitsuhashi, Kanako Goto, Burcu Tahire Köksal, Gülsev Kale, Kazutaka Ikeda, Ryo Taguchi, S. Noguchi, Yukiko Hayashi, Ikuya Nonaka, Roger B. Sher, Hiroyuki Sugimoto, Yasuhito Nakagawa, Gregory A. Cox, Haluk Topaloğlu, Ichizo Nishino   +23 more
openalex   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source