Results 141 to 150 of about 2,214,382 (367)

ADHESIONS OF THE SIGMOID ASSOCIATED WITH CONGENITAL ABNORMALITY OF THE MESENTERY CAUSING CONSTIPATION. [PDF]

, 1919
J. P. Lockhart-Mummery, Drury Pennington
openalex   +1 more source

Long‐Read Whole‐Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Synpolydactyly (SPD) is a heterogeneous distal‐limb malformation syndrome, characterized by webbing and duplication of adjacent digits. SPD1, the most common type, is attributed to disease‐causing variants in HOXD13, a transcription factor in the HOXD cluster that is essential for limb development. Here, we present a challenging exome‐negative
Jonathan Rips, Rivka Birnbaum, Chaim Jalas, Ayala Frumkin, Shamir Zenvirt, Julia Rachanaev, Avraham Shaag, Tamar Harel, Orly Elpeleg, Hagar Mor‐Shaked   +9 more
wiley   +1 more source

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

Case of Congenital Abnormality of the Right Ureter [PDF]

, 1925
A. Clifford Morson
openalex   +1 more source

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

A Case of Congenital Abnormality of the Uterus [PDF]

, 1940
A. Briant Evans
openalex   +1 more source

A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas, Susan Crawford, Tanya Bedard   +2 more
wiley   +1 more source

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

Three Cases of Chronic Pyuria with Congenital Abnormalities [PDF]

, 1929
June Davies
openalex   +1 more source

Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders, Fieke Draaisma, Corrie E. Erasmus, Catelijne Coppens, Lotte E. R. Kleimeier, Melanie Burgers, Tuula Rinne, Martin Zenker, Laura Mazzanti, Wesley Reintjes, Nens van Alfen, Jos M. T. Draaisma   +11 more
wiley   +1 more source