Results 61 to 70 of about 8,085,363 (299)

Prenatal phenotype of Kabuki syndrome: A case series and literature review

, 2021
Objectives: Kabuki syndrome (KS) is a genetic disorder characterized by intellectual disability, facial dysmorphism and congenital anomalies. We aim to investigate the prenatal features of fetuses with KS and to provide a comprehensive review of the ...
Luk, HM, Cheung, KW, Lok, WY, Hau, EW.L., Ho, S, Yu, KPT, Mak, SLA, Chung, MY, Hui, W, Lam, ST.S., So, PL, Cheng, SS.W., Lo, IF.M.   +12 more
core   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Factores asociados a la inasistencia al control prenatal en el primer y segundo trimestre del embarazo en un hospital de tercer nivel de Lima, Perú, 2023

Revista de la Facultad de Medicina Humana
Objetivo: comparar los factores asociados al control prenatal inadecuado en el primer y segundo trimestre de gestación en gestantes atendidas por consultorio externo del Instituto Nacional Materno Perinatal, un hospital de referencia de Lima, Perú.  
Claudia Veralucia Saldaña-Díaz, Andrés Campaña-Acuña, Rosemary Isabel López-Vidal, Victoria Naveros-Serda, Gabina Mamani-Conto, Jonathan Franco Rodas-Valladares, Luis Alfonso Meza-Santibañez   +6 more
doaj   +1 more source

The Changing Association Between Prenatal Participation in WIC and Birth Outcomes in New York City [PDF]

We analyze the relationship between prenatal WIC participation and birth outcomes in New York City from 1988-2001. The analysis is unique for several reasons.
Ted Joyce, Diane Gibson, Silvie Colman
core  

Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregnancies

, 2014
Objective The objective of this study is to assess the performance of noninvasive prenatal testing for trisomies 21 and 18 on the basis of massively parallel sequencing of cell-free DNA from maternal plasma in twin pregnancies.
Yi Zhou, Pan, Xiaoyu, Tze Kin Lau, Shi, Shuqiong, Zheng, Jing, Shi, Xiaomei, Weiwei Xie, Qun Fang, Wei Wang, Fuman Jiang, Yuan Wei, Fang Chen, Hui Jiang, Shengpei Chen, Li, Xuchao, Jiang, Fuman, Zhang, Chunlei, Su, Fengxia, Liu, Qiufang, Lau, Tze Kin, Lei, Dongzhu, Wu, Qichang, Xuchao Li, Gao, Ya, Xu, Chenming, Guo, Xiaoling, Yangyu Zhao, Shuqiong Shi, Wang, Wei, Huijuan Ge, Xie, Weiwei, Xiaoyu Pan, Xiaoling Guo, Qichang Wu, Wei, Yuan, Lifu Liu, Ge, Huijuan, Zhang, Hongyun, Fang, Qun, Fengxia Su, Min Chen, Xiaomei Shi, Jiang, Hui, Jing Zheng, Zhao, Yangyu, Qiufang Liu, Chunlei Zhang, Chen, Fang, Ya Gao, Chen, Min, Liu, Lifu, Zhou, Yi, Chenming Xu, Xuan Huang, Dongzhu Lei, Huang, Xuan, Chen, Shengpei, Hongyun Zhang   +57 more
core   +1 more source

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

Health disparities in chronic liver disease

Hepatology, EarlyView., 2022
Abstract The syndemic of hazardous alcohol consumption, opioid use, and obesity has led to important changes in liver disease epidemiology that have exacerbated health disparities. Health disparities occur when plausibly avoidable health differences are experienced by socially disadvantaged populations.
Ani Kardashian, Marina Serper, Norah Terrault, Lauren D. Nephew   +3 more
wiley   +1 more source

La preparación prenatal y el período de reestructuración de vida

Avances en Enfermería, 1993
<p>Hasta el momento de esperar un hijo, la mujer puede haber vivido su existencia con relativa poca introspección. La familia y la sociedad, con su influencia se han encargado de mantener normas más o menos claras sobre las cuales debe marchar su ...
Villarraga Liliana
doaj  

Maternal prenatal substance use and behavior problems among children in the U.S. [PDF]

Prenatal exposure to smoking and alcohol-use is found to be correlated with various adverse consequences for children, including behavior problems. However, it is not clear whether this relationship is an artifact of underlying confounding factors that ...
Sen, Bisakha, Swaminathan, Shailender
core  

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source