Results 181 to 190 of about 163,537 (314)

The contribution of birth defects to prematurity and low birthweight in a population-based screening study (The FASTER Trial) [PDF]

, 2004
Siobhan M. Dolan, Susan J. Gross, Irwin R. Merkatz, Vincent Faber, Fergal D. Malone, Flint Porter, David A. Nyberg, Christine H. Comstock, Gary Hankins, Keith Eddleman, Lorraine Dugoff, Sabrina Craigo, Ilan E. Timor‐Tritsch, Stephen R. Carr, Honor M. Wolfe, Mary E. D’Alton   +15 more
openalex   +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

Association between atmospheric particulate matter pollution during pregnancy and premature birth in China: a meta-analysis. [PDF]

Front Public Health
Guo B, Jiang X.
europepmc   +1 more source

Premature birth associated with a favorable course in gestational alloimmune liver disease (GALD): A case report. [PDF]

Front Pediatr, 2023
Mulzer LM, Reutter H, Jüngert J, Knisely AS, Schmid M, Hoerning A, Morhart P.   +6 more
europepmc   +1 more source

6 Nidcap Based Developmental Care Significantly Reduces Apnea of Prematurity (AOP) In Very Low Birth Weight Infants (VLBWI) [PDF]

, 2004
JM Tyebkhan, KL Peters, Leonora Hendson, JJ Cote, CA McPherson, R.K. Lemke   +5 more
openalex   +1 more source

A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone, Swetha Ramadesikan, Regan McGinley, Scott E. Hickey, Leeran B. Dublin‐Ryan, Steven I. Estes, Victoria A. Elliott, Benjamin Karabasz, Jesse M. Hunter, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +11 more
wiley   +1 more source

After neonatal care, what next? A qualitative study of mothers' post-discharge experiences after premature birth in Kenya. [PDF]

Int J Equity Health
Maluni J, Oluoch D, Molyneux S, Boga M, Jones C, Murila F, English M, Ziebland S, Hinton L.   +8 more
europepmc   +1 more source

Factors associated with premature birth: a case-control study. [PDF]

Rev Paul Pediatr, 2022
Defilipo ÉC, Chagas PSC, Drumond CM, Ribeiro LC.   +3 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

The Impact of SARS-CoV-2 Infection on Premature Birth-Our Experience as COVID Center. [PDF]

Medicina (Kaunas), 2022
Bobei TI, Haj Hamoud B, Sima RM, Gorecki GP, Poenaru MO, Olaru OG, Ples L.   +6 more
europepmc   +1 more source