Results 111 to 120 of about 350,440 (325)

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips, Hagar Mor‐Shaked, Oded Shamriz, Raz Somech, Rawan Abu Omar, Smadar Eventov‐Friedman, Noa Ofek‐Shlomai, Dvorah Zaguer, Tamar Harel   +8 more
wiley   +1 more source

The association between of placenta previa and congenital abnormalities: a systematic review and network meta-analysis. [PDF]

BMC Pediatr, 2023
Jenabi E, Bashirian S, Khoshravesh S.
europepmc   +1 more source

Book Review: Congenital Abnormalities in Infancy [PDF]

, 1963
D F Ellison Nash
openalex   +1 more source

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

TRANSVAGINAL ECHOCARDIOGRAPHY FOR THE PRENATAL DETECTION OF THE CONGENITAL HEART DISEASES

Педиатрическая фармакология, 2009
The ultrasonic study in the early pregnancy may successfully be used to perform the early prenatal detection of the congenital heart diseases in fetuses with the non cardiac abnormalities and sonographic markers of the chromosome pathology.Key words ...
E.A. Shevchenko
doaj   +2 more sources

Maternal exposure to SSRIs or SNRIs and the risk of congenital abnormalities in offspring: A systematic review and meta-analysis. [PDF]

PLoS One, 2023
Huang W, Page RL, Morris T, Ayres S, Ferdinand AO, Sinha S.   +5 more
europepmc   +1 more source

A Collaborative Approach to Pediatric Genetic Evaluation in the Era of Genomic Medicine

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To address the increased demand for genetic services and shortage of medical geneticists (MG), a collaborative pilot program was developed with a two‐part approach to care: (1) Initial genetic counselor (GC) appointment with exome sequencing (ES) and (2) follow‐up MG evaluation.
Sarah Jurgensmeyer Langas, Allison Goetsch Weisman, Valerie Allegretti, Katherine Kim, Roxanne Birriel, Carlos E. Prada   +5 more
wiley   +1 more source

Dislocated Extensor Mechanism in a Child With Bilateral Absent Patella Without Other Congenital Abnormalities. [PDF]

J Am Acad Orthop Surg Glob Res Rev, 2023
Yu A, Yu A, Russo M, Kothakapa D, Huang P, Mantica A.   +5 more
europepmc   +1 more source

A Systematic Review and Meta‐Analysis of the Birth Prevalence of Turner Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Turner syndrome, a chromosomal disorder, causes short stature, pubertal arrest, amenorrhea, and infertility in females. Prevalence estimates vary widely; however, reliable estimates are important for public health initiatives. Therefore, a meta‐analysis was undertaken.
David Hinds, Jeanne M. Pimenta, Andrea Low, Deepali Mittal, Smeet Gala, Digant Gupta   +5 more
wiley   +1 more source

The bacterial flora of neonates with congenital abnormalities of the gastro-intestinal tract [PDF]

, 1982
V.O. Rotimi, B. I. Duerden
openalex   +1 more source