Results 171 to 180 of about 89,906 (291)

Heterogeneous income gradients in early motherhood in Mexico: a population-based multi-method study, 2000-2020. [PDF]

Int J Equity Health
Serván-Mori E, Zamudio-Sosa A, Esposito L, Sandoval-Moreno G, Jara HX, Cavalcanti DM, Moncayo AL, Rasella D, Chivardi C.   +8 more
europepmc   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

The motherhood role expectations for young female patients with breast cancer: a qualitative study. [PDF]

Front Glob Womens Health
Han Y, Gao W, Zhang Q, Wang D, Li X, Deng N, Ma L, Han J.   +7 more
europepmc   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

The Importance of Motherhood for Early Maternal Bonding and Engagement. [PDF]

Matern Child Health J
Shreffler KM, Esparza K, Wyatt T.
europepmc   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

The Technologically Mediated Motherhood Constellation: Smartphone and AI as Novel Actors in Maternal Psychic Organization. [PDF]

JMIR Pediatr Parent
Cerniglia L, Cimino S.
europepmc   +1 more source

Motherhood

, 2023
openaire   +1 more source

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source

Experiences of Primiparous Mothers Using ChatGPTfor Breastfeeding and Infant Care. [PDF]

Matern Child Nutr
Savaş EH, Tümkaya MN, Çıkırıkçı EHK, Gürer PG, Kılınç ND.   +4 more
europepmc   +1 more source