Results 281 to 290 of about 916,639 (355)

The future at risk: Tackling newborn and child mortality amidst a global health crisis. [PDF]

PLOS Glob Public Health
Langlois EV, Gasparri G, Khosla R.
europepmc   +1 more source

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier, Christie A Boswell‐Patterson, Lucas Bronicki, Krista M. Vincent, Kalin Wilk, Andrea C. Yu, Gail E. Graham, Julie Richer   +7 more
wiley   +1 more source

A Partner Hospital Intervention to Decrease Readmissions for Newborn Hyperbilirubinemia. [PDF]

Pediatr Qual Saf
Chen LP, Goetz EM, Allen AH, Sklansky DJ, Koffarnus K, Shadman KA.   +5 more
europepmc   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project. [PDF]

Orphanet J Rare Dis
Saier C, Sansen S, Berghout J, Freyler K, Einhorn M, Einhorn Y, Matalonga L, Beltran S, Novelli A, Selvatici R, Fortunato F, Montanari S, Martinez-Fresno M, Gumus G, Agolini E, Garnier N, Ferlini A, Bertini E, Kirschner J.   +18 more
europepmc   +1 more source

The Behavioral Phenotype and Importance of Multidisciplinary Care in Patients With Sotos Syndrome: A Single‐Center Experience

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan, Andrew M. George, Evan R. Hathaway, Carlyn Glatts, Jennifer M. Kalish   +4 more
wiley   +1 more source

Failure in the mother-young communication in domestic mammals: endocrine and behavioral aspects. [PDF]

Front Vet Sci
Mota-Rojas D, Bienboire-Frosini C, Bettencourt AF, Villanueva-García D, Domínguez-Oliva A, Álvarez-Macías A, Fischer V, Mora-Medina P, Olmos-Hernández A, Hernández-Avalos I, Martínez-Burnes J, Abd El-Aziz AH, Orihuela A, Grandin T.   +13 more
europepmc   +1 more source

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz, Andrea Schelhaas, Angela L. Duker, Ricki S. Carroll   +3 more
wiley   +1 more source

Urgent need for newborn targeted sequencing screening technology in Shandong Province, China. [PDF]

World J Pediatr
Mu JL, Sun M, Li YL, Li PP, Zou H.
europepmc   +1 more source

Association Between Feeding Problems and Gastrointestinal Symptoms, Language, and Developmental History in Adults With Angelman Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delays, typical facial features, ataxia, seizures, speech impairments, sleeping difficulties, and a happy demeanor. Caregivers of individuals with AS often report feeding problems, with difficulties including issues with obesity, failure to gain ...
Ciara Cassidy, Arlene Mannion, Sally Whelan, Megan Tones, Helen Heussler, Matthew Bellgard, Geraldine Leader   +6 more
wiley   +1 more source