Results 241 to 250 of about 1,345,993 (362)

Postnatal Progressive Craniosynostosis: An Unusual Case Presentation Leading to Cascade Diagnosis for Multiple Generations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT NM_000141.5: FGFR2 c.1032G>A is a pathogenic variant that causes Crouzon syndrome through activation of a new donor splice site. This clinical report highlights the intrafamilial variability that can exist with this specific variant. The proband is a 4‐year‐old boy who initially presented with concern for seizures.
Jessica T. Ogawa, Maura Guyler, Krystal L. Tomei, Howard D. Wang   +3 more
wiley   +1 more source

Environmental maternal exposures and the risk of premature birth and intrauterine growth restriction: The Generation Gemelli study protocol of newborn exposome. [PDF]

PLoS One
Villani L, Pezzullo AM, Pastorino R, Maio A, Stollagli F, Tirone C, Barba M, Cozzolino AM, Pires Marafon D, Porcelli M, Sbordone A, Patti ML, Bottoni A, Paladini A, Fattore S, Romeo DM, Parolini O, Lattanzi W, Rindi G, Tamagnone L, Marazza M, Genuardi M, Tabolacci E, Mercuri EM, Chiaretti A, Pasciuto T, Sanguinetti M, Valentini V, Scambia G, Ricciardi W, Vento G, Lanzone A, Boccia S.   +32 more
europepmc   +1 more source

Is premature birth an environmental sensitivity factor? A scoping review protocol. [PDF]

BMJ Open, 2021
Lionetti F, Dellagiulia A, Prudentino G, Spinelli M, Pluess M, Fasolo M.   +5 more
europepmc   +1 more source

Association of Postnatal Dexamethasone Use and Fungal Sepsis in the Development of Severe Retinopathy of Prematurity and Progression to Laser Therapy in Extremely Low-Birth-Weight Infants

, 2001
MF Haroon Parupia, Ramasubbareddy Dhanireddy   +1 more
openalex   +1 more source

Equine Abortion and Premature Birth Associated with Cellulosimicrobium Cellulans Infection [PDF]

, 2004
David C. Bolin, James Donahue, Mary L. Vickers, R. C. Giles, Lenn R. Harrison, Carney Jackson, K. B. Poonacha, John F. Roberts, Manu Sebastian, Steve F. Sells, Robert R. Tramontin, Neil M. Williams   +11 more
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

Canadian contributions to environmetrics

Canadian Journal of Statistics, Volume 50, Issue 4, Page 1355-1386, December 2022., 2022
Abstract This article focuses on the importance of collaboration in statistics by Canadian researchers and highlights the contributions that Canadian statisticians have made to many research areas in environmetrics. We provide a discussion about different vehicles that have been developed for collaboration by Canadians in the environmetrics context as ...
Charmaine B. Dean, Abdel H. El‐Shaarawi, Sylvia R. Esterby, Joanna Mills Flemming, Richard D. Routledge, Stephen W. Taylor, Douglas G. Woolford, James V. Zidek, Francis W. Zwiers   +8 more
wiley   +1 more source

The Influence of Premature Birth on the Development of Pulmonary Diseases: Focus on the Microbiome. [PDF]

Metabolites
Wolska M, Wypych TP, Rodríguez-Viso P.
europepmc   +1 more source

Maternal adult attachment and maternal-fetal attachment in the context of romantic relationship quality after premature birth-A cross sectional study. [PDF]

Front Psychiatry, 2022
Lutkiewicz K, Bidzan M.
europepmc   +1 more source

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