Results 31 to 40 of about 68,843 (129)
American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2099-2105, September 2026.ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide +10 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2067-2079, September 2026.ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli +18 more
wiley +1 more source
Body dysmorphic disorder and its suicidal implications pertaining to adolescents [PDF]
, 2007 Includes bibliographical ...
Weisenbeck, Laura
core
Rejection Diagnosis After Uterus Transplantation
, 2019 Histopathology is currently the gold standard to diagnose rejection in transplanted organs. In contrast to other solid transplants, there is yet no knowledge about laboratory parameters or early clinical signs that may indicate rejection after uterus ...
Bröcker, Verena, +3 more
core +1 more source
, 2019 Most centers performing uterus transplantations do this as part of a study-which is the recommendation of the International Society of Uterus Transplantation (ISUTx).
Michael Olausson, Olausson, Michael,
core +1 more source
Assisted Reproduction Before and After Uterus Transplantation
, 2020 Assisted reproduction using in vitro fertilization (IVF) is an established therapy when sperm and egg cannot meet inside the body and was originally developed as treatment for infertility but advances in the spectrum of therapeutic alternatives have ...
Nilsson, LB, Olofsson, JI
core +2 more sources
Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.Exome sequencing in 200 CAKUT patients identified compound heterozygous rare CTU2 variants in one renal‐predominant case. Minigene splicing assays showed c.913C>T partially increased exon 9 skipping, supporting further case collection and kidney‐relevant studies to clarify the role of CTU2 in renal developmental phenotypes.
Qian Liu +5 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken +4 more
wiley +1 more source
T-shaped Uterus, Other Studies are Needed But What Can We Do in The Meantime? [PDF]
, 2022 Dysmorphic uterus is a condition that can affect fertility differently depending on the type of malformation. The most common uterine malformation is the septum but other uterine malformations can affect fertility, as t-shaped ...
Capobianco, Giampiero +5 more
core +1 more source
Case Report With Biallelic Variants in GCNT2 Implicates Exon 1B in Congenital Cataracts
American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1716-1718, July 2026.ABSTRACT GCNT2‐related cataracts is a disorder characterized by bilateral congenital cataracts (CC) of various types (with or without the adult i blood phenotype) and is caused by biallelic variants in GCNT2, which has 3 major isoforms, differentiated by alternative splicing of the first exon (known as exon 1A, B, and C).
Audrey O'Neill +5 more
wiley +1 more source