Results 241 to 250 of about 2,421,411 (338)

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Hope Through Tales: Through the Eyes of a Child of a Parent With Bipolar Disorder. [PDF]

J Psychiatr Ment Health Nurs
Johnson RM.
europepmc   +1 more source

A Population‐Based Assessment of Cancer Risk in Children With VACTERL

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cancer risk in children with VACTERL, a nonrandom co‐occurrence of ≥ 3 defects (vertebral, anal, cardiac, tracheoesophogeal fistula, renal, and limb), remains unclear. We evaluated this association in a population‐based study. We analyzed data from the Genetic Overlap Between Anomalies and Cancer in Kids (GOBACK) Study, a US registry linkage ...
Ji Yun Tark, Alexander Renwick, Giorgio Tettamanti, Rachel D. Harris, Tania A. Desrosiers, Andrew F. Olshan, Amanda E. Janitz, Michael E. Scheurer, Charles J. Shumate, Angela E. Scheuerle, Sharon E. Plon, Chad D. Huff, Ann Nordgren, Barbara Luke, Philip J. Lupo, Jeremy M. Schraw   +15 more
wiley   +1 more source

Are Blue Straggler Stars a Hidden Clue? Intriguing Discovery in Pityriasis Rubra Pilaris Under UV-Induced Fluorescence Dermoscopy

Dermatology Practical & Conceptual
Divya Madonna Dsouza, Jacintha Martis, Ramesh Bhat M, Michelle Serene Fernandes, Rochelle Cheryl Monteiro, Jyothi Jayaraman   +5 more
doaj   +1 more source

Achilles Tendon Xanthoma Inflammation Revealed by FDG-PET/CT in Familial Hypercholesterolemia: Insights From a 2-Generation Case Series. [PDF]

JACC Case Rep
Nakayoshi T, Tahara N, Sakata Y, Tanoue S, Fukumoto Y.   +4 more
europepmc   +1 more source

Brugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in the SCN5A gene and its subunits have been identified in individuals with Brugada Syndrome. One such SCN5A variant, c.689T>C(p.Ile230Thr), was previously reported as disease‐causing only in homozygous individuals, with heterozygous carriers being unaffected.
Shayla Shojaat, Benjamin Hale, Taylor Warner   +2 more
wiley   +1 more source

A digenic contribution of RPGRIP1 and SLC4A4 to juvenile-onset open-angle glaucoma phenotype with concomitant corneal dystrophy. [PDF]

Indian J Ophthalmol
Gupta V, Malik MA, Panigrahi A, Gupta S, Vanathi M, Kumar A, Sharma A.   +6 more
europepmc   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou, Gillian I. Rice, James O'Sullivan, Ben Parker, Ian N. Bruce, Emma Burkitt‐Wright, Tracy A. Briggs   +6 more
wiley   +1 more source

Parental Age and Childhood Allergy Risk.

JAMA Netw Open
Yamamoto-Hanada K, Harama D, Sato M, Miyaji Y, Sakamoto K, Nishizato M, Yang L, Kumasaka N, Mezawa H, Iwamoto S, Pak K, Nishizawa T, Nadeau KC, Fukami M, Ohya Y, Japan Environment and Children’s Study (JECS) Group.   +15 more
europepmc   +1 more source

The expression of father-daughter bond behaviors influences adult partner attachment in titi monkeys. [PDF]

Sci Rep
Witczak LR, Lau AR, Hobson BA, Freeman SM, Zablocki-Thomas PB, Dufek M, Ferrer E, Chaudhari AJ, Bales KL.   +8 more
europepmc   +1 more source