Results 161 to 170 of about 317,190 (282)

Anatomical–Motor Level Discrepancy in Prenatal Diagnosis of Open Spinal Dysraphism: A 12‐Year Retrospective Observational Study

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Objectives To quantify the discrepancy between anatomical and motor levels in foetuses with open spinal dysraphism and identify prenatal factors associated with this difference. We also examined associations between anatomical level and ultrasound findings. Design Retrospective observational study.
Silvia Arévalo, Elena Moreno, Mar Meléndez, Carlos Giné, Carlota Rodó, Alba Casellas, Alba Farràs, Manel Mendoza, Nerea Maiz   +8 more
wiley   +1 more source

Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns. [PDF]

J Clin Lab Anal
Choi N, Kim HY, Ko JM.
europepmc   +1 more source

Gonadal Development–Related Genes and a Male‐Specific Genetic Marker Identified in the Endangered Sichuan Taimen (Hucho bleekeri)

Integrative Zoology, EarlyView.
Integrated transcriptomic and proteomic analyses were used to validate gonadal development–related genes and to identify a sex‐specific molecular marker in Hucho bleekeri. ABSTRACT Sex determination and differentiation represent fundamental topics in reproductive biology. Sichuan taimen (Hucho bleekeri), a first‐class national protected fish species in
Qinyao Wei, Hua Li, Yeyu Chen, Huanchao Yang, Jun Du, Zhaobin Song   +5 more
wiley   +1 more source

Contribution of Copy Number Variants and Cumulative Genetic Load to Autism Spectrum Disorders: Integrative Insights from Chromosomal Microarray Analysis. [PDF]

Int J Mol Sci
Di Iorio MR, La Monica I, Imperatore A, Sica A, Iorio V, Pastore L, Lombardo B.   +6 more
europepmc   +1 more source

Chromosomal and genetic anomalies in fetuses with nuchal translucency between 3.0 and 3.4 mm: A systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Fetuses with a nuchal translucency between 3.0 and 3.4 mm showed a high rate of chromosomal anomalies and copy number variants, most of which could potentially be detected through cell‐free DNA. Abstract Introduction To report the prevalence of chromosomal anomalies in fetuses with a nuchal translucency (NT) between 3.0 and 3.4 mm and to assess the ...
Arianna Carta, Lorenza Della Valle, Giuseppe Rizzo, Ilenia Mappa, Giuseppe Maruotti, Maria Elena Flacco, Lamberto Manzoli, Gennaro Cormio, Asma Khalil, Alberto Galindo, Francesco D'Antonio   +10 more
wiley   +1 more source

Axenfeld-Rieger Syndrome with Negative Chromosomal Microarray and Whole-Exome Sequencing: A Case Report. [PDF]

Int Med Case Rep J
Moraes PC, Montalli VAM, Sperandio M, Dos Santos AM, Rosa ACG.   +4 more
europepmc   +1 more source

Prenatal imaging phenotypes and outcomes of umbilical‐portal‐systemic venous shunts in singleton and twin pregnancies: A historical cohort study

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
This retrospective cohort compared umbilical‐portal‐systemic venous shunts in singleton and twin pregnancies. Type III was the most common subtype in singletons, whereas Type II was the most common in twins. Fetal growth restriction was more frequent in twins, but primary structural anomaly rates were similar.
Yun Zhang, Meng Meng, Fengyu Wu, Jianping Chen, Fenhe Zhou, Yuchun Ge, Ya Xing, Xinyao Zhou, Gang Zou   +8 more
wiley   +1 more source

A 350 kb <i>NEXMIF</i> Microdeletion Identified by Chromosomal Microarray in an Adult Patient with Jeavons Syndrome. [PDF]

Genes (Basel)
Benvenuto M, Costantino U, Palumbo P, Carella M, Castori M, d'Orsi G, Palumbo O.   +6 more
europepmc   +1 more source

Chromosomal Microarray: Application for Congenital Heart Diseases [PDF]

Korean Circulation Journal, 2018
openaire   +2 more sources

Global Recommendations for the Use of Diagnostic Genomic Sequencing in the Prenatal Setting on Behalf of the ESHG and ISPD

Prenatal Diagnosis, EarlyView.
Zandra C. Deans, Lina Basel Salmon, Kwong Wai Choy, Guido de Wert, Zirui Dong, Lilian Downie, Francesca Romana Grati, Sabine Hentze, Paula Jorge, Brynn Levy, Luca Lovrecic, Dora Mayen, Álvaro Mendes, Michael Morris, Ashley Pritchard, Raquel Gouveia Silva, Tina‐Marié Wessels, Francesca Forzano, Natalie J. Chandler   +18 more
wiley   +1 more source