scroll to top
0

EBSCO Auth Banner

Let's find your institution. Click here.

Advanced Search Results For "HUMAN abnormalities"

1 - 10 of 328,055 results for
 "HUMAN abnormalities"
Results per page:

The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.

Publication Type: Academic Journal

Source(s): Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Nov; Vol. 24 (11), pp. 2240-2248. Date of Electronic Publication: 2022 Aug 23.

Abstract: Purpose: Postzygotic (somatic) variants in the mTOR pathway genes cause a spectrum of distinct developmental abnormalities. Accurate classification of somatic variants in this group of disorders is crucial for affected individuals and their families.Me...

View details

Congenital lung malformation patients experience respiratory infections after resection: A population-based cohort study.

Publication Type: Academic Journal

Source(s): Journal of pediatric surgery [J Pediatr Surg] 2022 May; Vol. 57 (5), pp. 829-832. Date of Electronic Publication: 2022 Jan 13.

Abstract: Purpose: The benefit of elective resection of congenital lung malformations continues to be debated. Proponents of resection endorse a decreased risk of respiratory complications as one indication for surgery. Our study aimed to compare the prevalence ...

View details

Influenza vaccination during pregnancy and risk of selected major structural noncardiac birth defects, National Birth Defects Prevention Study 2006-2011.

Publication Type: Academic Journal

Source(s): Pharmacoepidemiology and drug safety [Pharmacoepidemiol Drug Saf] 2022 Aug; Vol. 31 (8), pp. 851-862. Date of Electronic Publication: 2022 Apr 22.

Abstract: Purpose: To assess associations between influenza vaccination during etiologically-relevant windows and selected major structural non-cardiac birth defects.Study Design: We analyzed data from the National Birth Defects Prevention Study, a multisite, po...

View details

Two Japanese patients with Noonan syndrome-like disorder with loose anagen hair 2.

Publication Type: Report

Source(s): American journal of medical genetics. Part A [Am J Med Genet A] 2022 Jul; Vol. 188 (7), pp. 2246-2250. Date of Electronic Publication: 2022 Mar 25.

Abstract: Noonan syndrome-like disorder with loose anagen hair (NSLH) is a rare disease characterized by typical features of Noonan syndrome with additional findings of relative or absolute macrocephaly, loose anagen hair, and a higher incidence of intellectual ...

View details

Presence of Cervical Vertebral Anomalies with Concomitant Non-Communicating Hydrocephalus and Multicystic Kidney in a Female Fetus: Where VACTERL-H Meets MURCS.

Publication Type: Academic Journal

Source(s): Fetal and pediatric pathology [Fetal Pediatr Pathol] 2022 Oct; Vol. 41 (5), pp. 871-880. Date of Electronic Publication: 2021 Oct 23.

Abstract: Background: Congenital multisystemic lesions with co-occurrence of non-random malformations, such as VACTERL-H or MURCS association, often pose serious threads to the newborn and still constitute an antenatal diagnostic dilemma.Case Report: A malformed...

View details

Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome.

Publication Type: Academic Journal

Source(s): American journal of medical genetics. Part A [Am J Med Genet A] 2022 Oct; Vol. 188 (10), pp. 2932-2940. Date of Electronic Publication: 2022 Jul 21.

Abstract: Pathogenic variants in GEMIN4 have recently been linked to an inherited autosomal recessive neurodevelopmental disorder characterized with microcephaly, cataracts, and renal abnormalities (NEDMCR syndrome). This report provides a retrospective review o...

View details

Obsessive-compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome.

Publication Type: Academic Journal

Source(s): Journal of neural transmission (Vienna, Austria : 1996) [J Neural Transm (Vienna)] 2022 Nov; Vol. 129 (11), pp. 1387-1391. Date of Electronic Publication: 2022 Oct 07.

Abstract: Symptoms of obsessive-compulsive disorder (OCD) may rarely occur in the context of genetic syndromes. So far, an association between obsessive-compulsive symptoms (OCS) and ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome has not been des...

View details

Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.

Publication Type: Academic Journal

Source(s): European journal of medical genetics [Eur J Med Genet] 2022 Nov; Vol. 65 (11), pp. 104624. Date of Electronic Publication: 2022 Sep 18.

Abstract: Ritscher-Schinzel syndrome (RTSCS) is a rare genetic condition characterized by peculiar craniofacial features and cerebellar and cardiovascular malformations. To date, four genes are implicated in this condition. The first two genes described were the...

View details

T-cell Lymphoblastic Lymphoma in a Patient With Chromosome 8q21.11 Microdeletion.

Publication Type: Academic Journal

Source(s): Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2022 Apr 01; Vol. 44 (3), pp. e756-e759.

Authors:

Abstract: The chromosome 8q21.11 deletion syndrome is an extremely rare genetic condition characterized by facial dysmorphic features, Peters anomaly and impaired intellectual development. We report a case of a 2-year-old female with chromosome 8q21.11-q21.2 mic...

View details

Facial cleft presenting as a congenital facial papule.

Publication Type: Academic Journal

Source(s): Pediatric dermatology [Pediatr Dermatol] 2022 Nov; Vol. 39 (6), pp. 990-991. Date of Electronic Publication: 2022 Jun 08.

Abstract: Tessier number 3 craniofacial clefts are a rare congenital deformity of the oronasoocular region with variable severity, most often with serious impacts on appearance and function due to involvement of the bone and soft tissue. However, they can occasi...

View details
sponsored