Results 91 to 100 of about 22,210,683 (294)

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 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

Karyotype analysis of oregano Coleus amboinicus Lour.

, 1990
Mitosis and karyotype analysis of chromosomes from root tip cells of oregano, C.amboinicus Lour. were done. Somatic chromosome number of 2n=12 was noted with a frequency of 42.86%. Mitosis was normal in all cells observed. Karyotype analysis revealed
Alfonso, Jocelyn B
core  

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Role of SoxE transcription factors in development and disease

Developmental Dynamics, EarlyView.
Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley   +1 more source

Karyotype is not dead (yet)! [PDF]

, 2016
International audienceBackground: While array-comparative genomic hybridization (a-CGH) and next-generation sequencing (NGS or exome) technologies have swiftly spread throughout the medical field, karyotype has gradually lost its leading role among ...
Colin, Estelle, L. Pasquier, Quélin, Chloé, M. Fradin, Jaillard, Sylvie, M.A. Belaud-Rotureau, Journel, Hubert, D. Martin-Coignard, Fradin, Mélanie, E. Colin, Demurger, Florence, E. Chérot, Chérot, Elouan, J. Lucas, S. Jaillard, Jauffret, Vincent, Odent, Sylvie, H. Journel, Belaud-Rotureau, Marc-Antoine, L. Akloul, S. Odent, Martin-Coignard, Dominique, F. Demurger, V. Jauffret, Pasquier, Laurent, Lucas, Josette, C. Quélin, Akloul, Linda   +27 more
core   +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

Karyotype analysis of Silene behen L. (Caryophyllaceae)

, 2008
In this study, the karyotype analysis of the species of Silene behen L. was examined using Image Analysis System. The chromosome lengths range from 2.54 to 4.74 µm; also diploid chromosome number is 2n 24.
Dinç, Muhittin, Martin, Esra, Duran, Ahmet, Öztürk, Meryem   +3 more
core  

Comparative karyotype analysis of the Pseudotsuga genus

, 1982
Numerical data were collected from the karyotypes of seven species in the Pseudotsuga genus, P. forrestii, P. sinensis, P. gaussenii, P. japonica, P. wilsoniana, P. macrocarpa and both varieties of P. menziesii, (Douglas-fir), menziesii and glauca.
Colangeli, Anna Maria
core   +1 more source

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source