Results 191 to 200 of about 45,424 (315)

Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent‐Centered Website: Parental and Professional Views

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The scarcity of clinical information surrounding rare chromosome disorders poses challenges for parents and clinicians. To bridge this gap for chromosome 6 disorders, the Chromosome 6 Project collects detailed genotype and phenotype data, aiming to provide aberration‐specific phenotype information to parents via an interactive website.
Eleana Rraku, Aafke Engwerda, Tyler D. Medina, Morris A. Swertz, Lennart F. Johansson, Conny M. A. van Ravenswaaij‐Arts, Imke Christiaans   +6 more
wiley   +1 more source

Risk of osteoporosis in testicular germ cell tumour survivors: A systematic review of the literature

BJUI Compass, Volume 4, Issue 1, Page 24-43, January 2023., 2023
Abstract Context Testicular germ cell tumour (TGCT) survivors are potentially at risk of developing osteoporosis, because of increased risk for disturbed bone remodelling associated with hypogonadism and anti‐cancer treatment. A number of studies show bone loss and increased fracture risk in TGCT survivors, but data are scarce.
Josephina P. M. Vrouwe, Pauline M. L. Hennus, Neveen A. T. Hamdy, Susanne Osanto, Peter‐Paul M. Willemse   +4 more
wiley   +1 more source

Mental Health Across the Metabolic Spectrum. [PDF]

Biol Psychiatry Glob Open Sci
Saxena V, Marin-Valencia I.
europepmc   +1 more source

Inborn anemias in mice. Comprehensive progress report to accompany twenty-first renewal proposal, 1 May 1973--30 April 1976

, 1976
Elizabeth S. Russell, S E Bernstein
openalex   +2 more sources

Inborn Errors of Metabolism: Garrod’s Legacy [PDF]

, 1996
Alexander G. Bearn
openalex   +1 more source

Abnormal DNA Methylation Profile Suggests the Extension of the Clinical Spectrum of the SETD2‐Related Disorders to a Syndromic Multiple Tumor Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth.
Marie Lucain, Antonio Vitobello, Bekim Sadikovic, Juliette Albuisson, Léa Gaudillat, Martin Chevarin, Julien Maraval, Christel Thauvin‐Robinet, Jennifer Kerkhof, Christophe Philippe, Sophie Nambot, Laurence Faivre   +11 more
wiley   +1 more source

Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C type. [PDF]

Heliyon
Mondesert E, Baud B, Roubertie A, Benoist JF, Grillet PE, Cristol JP, Francois-Heude MC, Schiff M, Badiou S.   +8 more
europepmc   +1 more source

Neonatally Lethal Fanconi Anemia due to an Amish Founder FANCE Gene Variant; Evidence for Genotype–Phenotype Correlation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Prenatal and neonatal presentations of multiple congenital anomalies are difficult to diagnose and are associated with an increased risk of lethality. The differential diagnosis of antenatal presentations of radial ray malformations includes Fanconi anemia (FA), an inherited bone marrow failure disorder associated with congenital anomalies in ...
Ethan M. Scott, Olivia K. Wenger, Matthew Adams, Emma L. Baple, Andew Crosby, Joseph Leslie   +5 more
wiley   +1 more source

Challenges in the clinical management of rare diseases and center-based multidisciplinary approach to creating solutions. [PDF]

Eur J Pediatr
Gunes D, Karaca M, Durmus A, Ak B, Aktay Ayaz N, Altınel ZU, Aslanger AD, Atalar F, Balci MC, Bilgin L, Darendeliler F, Demirkol D, Durmaz O, Gedikbasi A, Inan Balci E, Ince EZ, Karadag SG, Keskindemirci G, Nisli K, Ozcetin M, Somer A, Unuvar A, Uysalol M, Yildiz E, Yuruk Yildirim ZN, Demirkol M, Gokcay GF.   +26 more
europepmc   +1 more source

Inborn anemias in mice. Progress report, 1 May 1977--31 July 1978

, 1978
S.E. Bernstein, E.S. Russell
openalex   +2 more sources