Results 41 to 50 of about 76,750 (219)

Chromosomal Abnormalities in Miscarriages and Maternal Age: New Insights from the Study of 7118 Cases

Cells
Chromosomal abnormalities of the embryo are the most common cause of first-trimester pregnancy loss. In this single-center study, we assessed the frequency and the spectrum of chromosomal abnormalities in miscarriages for each year of maternal age from ...
Anna A. Pendina, Mikhail I. Krapivin, Olga G. Chiryaeva, Lubov’ I. Petrova, Elizaveta P. Pashkova, Arina V. Golubeva, Andrei V. Tikhonov, Alla S. Koltsova, Ekaterina D. Trusova, Dmitrii A. Staroverov, Andrey S. Glotov, Olesya N. Bespalova, Olga A. Efimova   +12 more
doaj   +1 more source

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa, Joana Rosa Marques Prota, Antonia Paula Marques‐de‐Faria, Carlos Eduardo Steiner, Társis Paiva Vieira   +4 more
wiley   +1 more source

Effects of oropharyngeal neuromuscular stimulation on the volumetric enlarged and reduced tongue base in minipigs

The Anatomical Record, EarlyView.
Abstract Hypoglossal nerve or tongue protruding muscle stimulation is a current treatment option for obstructive sleep apnea. Thus, the present study analyzed 3D deformations of the volumetric enlarged and reduced tongue base upon oropharyngeal neuromuscular stimulation.
Sydney Chen, Doris Haydee Rosero Salazar, Zi‐Jun Liu   +2 more
wiley   +1 more source

Trisomy 21 and Down syndrome: a short review

Brazilian Journal of Biology
Even though the molecular mechanisms underlying the Down syndrome (DS) phenotypes remain obscure, the characterization of the genes and conserved non-genic sequences of HSA21 together with large-scale gene expression studies in DS tissues are enhancing ...
CA. Sommer, F. Henrique-Silva
doaj   +1 more source

Improving the Positive Predictive Value of Non-Invasive Prenatal Screening (NIPS). [PDF]

PLoS ONE, 2017
We evaluated performance characteristics of a laboratory-developed, non-invasive prenatal screening (NIPS) assay for fetal aneuploidies. This assay employs massively parallel shotgun sequencing with full automation.
Charles M Strom, Ben Anderson, David Tsao, Ke Zhang, Yan Liu, Kayla Livingston, Christopher Elzinga, Matthew Evans, Quoclinh Nguyen, David Wolfson, Charles Rowland, Paula Kolacki, Megan Maxwell, Jia-Chi Wang, Douglas Rabin, Joseph Catanese, Renius Owen, Corey Braastad, Weimin Sun   +18 more
doaj   +1 more source

Long survival case of trisomy 13 mosaicism in a 7-year-old male [PDF]

, 2012
Trisomy 13 is a complication of various congenital abnormalities of the heart, brain, etc. Regarding the vitalprognosis, many die within a year from birth.
Imataka, George, Tsuboi, Tatsuo, Watabe, Yoshiyuki, Arisaka, Osamu, Hagisawa, Susumu, Tsukada, Keiko, Ohwada, Yoko   +6 more
core  

Clinical and Genetic Factors Associated With Regression in Children With Autism Spectrum Disorders

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with complex genetic and environmental underpinnings. A clinically significant subset of children with ASD experience developmental regression (regASD), characterized by the acute loss of previously acquired skills. The mechanisms, predictors, and molecular basis of
Anna Maruani, Emma Delclaud, Paul Bruzeau, Richard Delorme, Anne‐Claude Tabet, Valérie Vantalon, Jonathan Levy, Pierre Ellul   +7 more
wiley   +1 more source

Empirical Classification of Tri-Allelic Genotype Cases and Parentage Index Calculation

Fayixue Zazhi
ObjectiveTo standardize the calculation method of the parentage index （PI） for short tandem repeat （STR） tri-allelic genotypes, thereby ensuring the accuracy and reliability of parentage tes‑ ting conclusions.MethodsA systematic analysis of 160 real ...
YANG Le, REN He, SHI Yan, CHEN Chong, JIA Li, YANG Qian, LIU Yacheng, YAN Jiangwei   +7 more
doaj   +1 more source

Genetic testing among patients evaluated for epilepsy surgery

Epileptic Disorders, EarlyView.
Abstract Objective Genetic testing performed to identify the underlying etiology of epilepsy has become increasingly common and is now being recommended as part of the presurgical evaluation for epilepsy surgery. This study aimed to characterize the types of genetic tests performed in patients evaluated for epilepsy surgery and assess how genetic ...
Anni Saarela, Veera‐Julia Kuronen, Oskari Timonen, Leena Jutila, Katri Silvennoinen, Annemari Kilpeläinen, Jarkko Kirjavainen, Reetta Kälviäinen   +7 more
wiley   +1 more source