Results 191 to 200 of about 3,140,400 (284)

The explored experiences of Latino families in the neonatal intensive care unit. [PDF]

BMC Health Serv Res
Ondusko DS, Underwood Carrasco VI, Platteau A, Klawetter S, Hunte RS, Carter EH, Osborne M, Peterson JW.   +7 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

Protein aggregation drives cell aging in a size-specific manner in <i>Escherichia coli</i>. [PDF]

mBio
Wagener L, Nath A, Tuğrul M, Aertsen A, Steiner UK, Proenca AM.   +5 more
europepmc   +1 more source

Mothers’ milk [PDF]

Nature, 2016
openaire   +2 more sources

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Affiliative behaviours regulate allostasis development and shape biobehavioural trajectories in horses. [PDF]

Nat Commun
Valenchon M, Reigner F, Lefort G, Adriaensen H, Gesbert A, Barrière P, Gaude Y, Elleboudt F, Lévy I, Ducluzeau C, Dupont J, Lainé AL, Uszynski I, Dardente H, Poupon C, Lansade L, Calandreau L, Keller M, Barrière DA.   +18 more
europepmc   +1 more source

Marfan Syndrome Associated With Intellectual Disability and Behavioral Anomalies: Further Evidence for the Effect of Compound Heterozygous Variants in FBN1 on Phenotypic Severity

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marfan syndrome (MFS) is a rare connective tissue disorder characterized by involvement of the cardiovascular, ocular, and musculoskeletal systems. Pathogenic variants in FBN1 cause most of the MFS cases; however, intellectual disability (ID) is rarely observed. A non‐consanguineous Pakistani family with four affected individuals was recruited.
Azmatullah Khan, Naseebullah Kakar, Ainullah Kakar, Malte Spielmann, Sajid Malik   +4 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

Transplacental Transfer of Lumefantrine, Mefloquine, and Piperaquine: A Comparison of Concentrations in Mothers, Neonates, and Cord Blood. [PDF]

Clin Infect Dis
Saito M, Gilder ME, Carrara VI, Archusuksan L, Eh H, Eh N, Ner M, Win AK, Niwetphongprai L, Koesukwiwat U, Tarning J, White NJ, Nosten F, McGready R.   +13 more
europepmc   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source