Results 91 to 100 of about 423,772 (336)

The role of the pediatrican in the effort to prevent congenital malformations [PDF]

, 2011
N
Brent, Robert L, Dr.
core   +1 more source

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

Prenatal diagnosis of urinary track defects

Journal of Education, Health and Sport, 2019
Introduction Congenital malformations are the main cause of miscarriage, perinatal mortality and disability among children. According to Polish Registry of Congenital Malformations for 2005-2006 congenital disorders affect 2.0-4.0% of newborns.
Agnieszka Maria Berendt, Monika Wójtowicz-Marzec   +1 more
doaj   +1 more source

Lymphangioma Involving the Foetal Lower Limb, A Rare Condition Diagnosed on Prenatal Ultrasound [PDF]

Journal of Clinical and Diagnostic Research, 2014
Foetal lymphangiomas are found to frequently occur at the nuchal region. We are reporting a case of a foetal lypmhangioma which involved the abdominal wall and right lower extremity, which was diagnosed by prenatal ultrasonography at 27 weeks of ...
Sunil Kumar K S, Suchith Hoblidar, Ramesh Kumar R, Rathnamala M Desai, Nayana A Yelamali   +4 more
doaj   +1 more source

Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the KCNH2 Gene in a Fetus With Familial 2q14.2 Duplication

Frontiers in Genetics, 2022
Background: Pathogenic mutations in the KCNH2 gene were associated with long QT syndrome 2 (LQT2), which typically manifest in a prolonged QT interval and may lead to recurrent syncopes, seizure, or sudden death.
Jianlong Zhuang, Chunnuan Chen, Yuanbai Wang, Shuhong Zeng, Yu’e Chen, Yuying Jiang, Yingjun Xie, Yingjun Xie, Gaoxiong Wang   +8 more
doaj   +1 more source

Integration of three-dimensional ultrasonography in the prenatal diagnosis of amniotic band syndrome: A case report.

Journal of the Turkish-German Gynecological Association, 2014
Amniotic band syndrome is a rare disorder which is thought to be caused by early rupture of the amniotic membrane. The extent of the disease may vary from minor digital amputations to severe lethal anomalies.
M. Turgal, Ozgür Ozyüncü, A. Yazıcıoğlu, L. Onderoğlu   +3 more
semanticscholar   +1 more source

Prenatal Diagnosis of Otocephaly by Three-dimensional Ultrasonography

Taiwanese Journal of Obstetrics and Gynecology, 2004
SummaryObjectiveOtocephaly is a rare congenital malformation complex. The purpose of this paper is to report our experience of prenatal diagnosis using three-dimensional ultrasonography.Case ReportA 30-year-old primigravida was referred at 29 weeks of gestation for polyhydramnios and regular uterine contractions.
Chih-Ping Chen, Chin-Yuan Hsu, Fang-Yu Hung, Kuo-Gon Wang   +3 more
openaire   +3 more sources

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

DIAGNOSTICO PRENATAL DE SITUS INVERSUS TOTALIS

Revista Chilena de Obstetricia y Ginecología, 2002
Se presenta un caso clínico de diagnostico prenatal por ultrasonografía de Situs Inversus completo en la Unidad de ultrasonografía del Hospital San Juan de Dios con su confirmación post natal por radiología y ultrasonografía.
Mario Paublo M, Juan Carlos Bustos V, Pedro Ramírez H   +2 more
doaj  

Understanding Taiwanese Women's Decisional Experiences Regarding Prenatal Screening Procedures And Diagnostics: A Phenomenological Study

Asian Nursing Research, 2020
Purpose: This study sought to understand Taiwanese women’s decisional experiences regarding prenatal screening procedures and diagnostics. Methods: A hermeneutic phenomenological design guided semistructured interviews with 33 women who were 36 weeks ...
Mei-Man Chen, Bi-Hua Cheng
doaj   +1 more source