Results 201 to 210 of about 163,537 (314)

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

HucMSCs-derived Exosomes Promote Lung Development in Premature Birth via Wnt5a/ROCK1 Axis. [PDF]

Stem Cell Rev Rep
Li X, Huang L, Mao M, Xu H, Liu C, Liu Y, Liu H.   +6 more
europepmc   +1 more source

Protease Inhibitor Treatment of HIV‐1–Infected Women May Protect against Extreme Prematurity and Very Low Birth Weight [PDF]

, 2007
Karen Beckerman
openalex   +1 more source

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff, Hans Christian Schmidt, Matthias Hans Belau, Johanna Hagens, Mario Lange, Daniel Tegtmeyer, Konrad Reinshagen, Frederike Leonie Harms, Christian Tomuschat   +8 more
wiley   +1 more source

Internet-Based Interventions for Preventing Premature Birth in Preconceptional Women of Childbearing Age: Systematic Review.

J Med Internet Res
Kim SH, Jung SY, Park JH, De Gagne JC.
europepmc   +1 more source

Intergenerational Occurrence of Premature Birth and Reproductive Health in Prematurely-Born Women in the Women's Health Initiative. [PDF]

Matern Child Health J
Sullivan MC, Brewer PL, Roberts MB, Wild RA, Shadyab AH, Sealy-Jefferson S, Eaton CB.   +6 more
europepmc   +1 more source

Retinopathy of prematurity in infants with birth weight ≥ 1250 grams—incidence, severity, and screening guideline cost-analysis [PDF]

, 2007
Michael B. Yang
openalex   +1 more source

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source

The impact of premature birth on auditory-visual processes in very preterm schoolchildren. [PDF]

NPJ Sci Learn
Décaillet M, Denervaud S, Huguenin-Virchaux C, Besuchet L, Fischer Fumeaux CJ, Murray MM, Schneider J.   +6 more
europepmc   +1 more source

Influence of the wars in Croatia and Bosnia and Herzegovina on the incidence and outcome of singleton premature births in the Split University Hospital [PDF]

, 2008
Ivana Pavlinac, Ana Marín-Sánchez, Maja Valić, Jelena Marušić, Damir Roje, Renata Pecotić, Ivica Tadin, Zoran Đogaš   +7 more
openalex   +1 more source