Results 51 to 60 of about 264,845 (291)

Fetal lung lesions diagnosis: the crucial role of ultrasonography [PDF]

, 2009
Fetal lung lesions may cause significant effects of mass and may evolve into a non-immune hydrops and lead to the death of the fetus or the child. Treatment options for these severely affected infants are constantly evolving.
Maiello, Monica, Dinatale, Angela, Palermo, Mariarosaria, Carrara, Sabina, Esposito, Nunzia, Pedata, Rosa, Cavaliere, Alessandra, Ermito, Santina   +7 more
core   +1 more source

Analysis of genetic testing in fetuses with congenital heart disease of single atria and/or single ventricle in a Chinese prenatal cohort

BMC Pediatrics, 2023
Objective This study aimed to investigate the genetic etiologies of fetuses with single atria and/or ventricle (SA or/and SV) using different genetic detection methods in a Chinese prenatal cohort. Methods In this retrospective study, the various genetic
Min Li, Baoying Ye, Yiyao Chen, Li Gao, Yi Wu, Weiwei Cheng   +5 more
doaj   +1 more source

Arhgef1 Deletion Disrupts Early Cortical Neurogenesis via PAK1 Overactivation and Causes Motor Dysfunction in Adulthood

Advanced Science, EarlyView.
ARHGEF1 plays a pivotal role in both embryonic cortical neurogenesis and adult motor function. During early development, it governs genesis of deep‐layer cortical neurons by negatively regulating RAC1/CDC42‐PAK1‐Cofilin signaling. In adulthood, ARHGEF1 is important for the maintenance of neuronal morphology and activity in the motor cortex, ensuring ...
Liuren Li, Xuanyue Ma, Zhenyu Ding, Bang Sun, Linglin Liu, Hei Matthew Yip, Wei Wang, Tianying Wu, Yuan Guo, Yinghui Peng, Shiqing Zhang, Jacque Pak Kan Ip, Li Zhang, Keshen Li, Lei Shi   +14 more
wiley   +1 more source

Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review

Molecular Genetics & Genomic Medicine, 2023
Background Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is a rare X‐linked dominant, lethal male disorder caused by mutations to the NSDHL (NAD(P)H steroid dehydrogenase‐like protein) gene.
Jianlong Zhuang, Qi Luo, Meihua Xie, Yu’e Chen, Yuying Jiang, Shuhong Zeng, Yuanbai Wang, Yingjun Xie, Chunnuan Chen   +8 more
doaj   +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

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

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

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

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Dandy-Walker Variant : Prenatal Diagnosis by Ultrasonography [PDF]

Medical Journal Armed Forces India, 2004
The Dandy-Walker complex is a rare congenital intracranial malformation that comprises a spectrum of abnormalities of the posterior fossa which are classified as (a) Dandy-Walker malformation (cystic dilatation of the 4th ventricle, complete or partial agenesis of the cerebellar vermis and an enlarged posterior fossa) (b) Dandy-Walker variant (cystic ...
A, Alam, B N, Chander, M, Bhatia
openaire   +2 more sources