Results 151 to 160 of about 2,214,382 (367)

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  

Childhood Obesity with Congenital Abnormalities [PDF]

, 1936
Ernest Fletcher
openalex   +1 more source

Congenital cutaneous fibropapillomatosis in a warmblood foal [PDF]

, 2016
In this report, clinical and histological findings of a rare case of a large congenital fibropapilloma on the forehead of a warmblood foal are reported. Surgical excision was curative and no recurrence was observed after nine months.
de Cock, Hilde, de Morée, Ron, Martens, Ann, Oosterlinck, Maarten, Picavet, Marie-Thérèse, Van de Water, Eline   +5 more
core   +1 more source

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A‐Related Neurodevelopmental Disorder Spectrum: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Markus Ries, Maja Hempel   +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

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 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

Persistent Erythematous Telangiectatic Condition of Feet, Associated with a Congenital-Developmental Abnormality of Body-Build Allied to Arachnodactylia [PDF]

, 1933
Florian Weber
openalex   +1 more source

Congenital Abnormality of Spine [PDF]

Proceedings of the Royal Society of Medicine, 1933
F. W. M. Pratt, Pearse Williams
openaire   +3 more sources

AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear, Paul Kalitsis, Melissa Glass, Bertrand Isidor, Catherine Vincent‐Delorme, Florence Petit, Judith M. A. Verhagen, Alexander Jorge, Ana Cristina Victorino Krepischi, Ikeoluwa Osei‐Owusu, Eva Martinez, Anne O'Donnell‐Luria, Nicole de Leeuw, Sarah Ruggiero, Ingo Helbig, Francis David I, Natasha J. Brown   +16 more
wiley   +1 more source