Results 171 to 180 of about 167,976 (219)

Promoter competition and Polycomb response elements govern transvection efficiency between co-regulated engrailed and invected genes in Drosophila. [PDF]

Genetics
Cheng Y, Perkins AT, Chan FW, Gehred ND, Bateman JR, Kassis JA.   +5 more
europepmc   +1 more source

Clinical Insights From a Case of Sifrim‐Hitz‐Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To enhance clinicians' understanding of Sifrim‐Hitz‐Weiss syndrome (SIHIWES), this study investigated the clinical phenotypes, genetic characteristics, and response to growth hormone therapy in a patient. A case of a patient with global developmental delay and distinctive facial features is presented.
Jianmei Zhang, Shuangzhong Chen, Guanping Dong, Suhong Yang, Ping Wang, Qiong Zhou, Pingping Wang   +6 more
wiley   +1 more source

Decoding the Avian Missing Gene Mystery: Dot Chromosomes Unmask Extensive Gene Loss and Novel Genetic Instability. [PDF]

Genome Biol Evol
Hron T, Miklík D, Pačes J, Pajer P, Pečenka V, Hejnar J, Nehyba J, Elleder D.   +7 more
europepmc   +1 more source

An evolutionarily conserved early replicatig segment on the sex chromosomes of man and great apes [PDF]

, 1986
Schempp, Werner, Weber, Bernhard, Wiesner, Henning   +2 more
core  

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

Comparative cytogenetics of the <i>Physalaemus gracilis</i> group (Anura, Leptodactylidae) with characterization of the karyotype of <i>Physalaemus evangelistai</i> Bokermann, 1967. [PDF]

Comp Cytogenet
Mosquini PHP, Souza LHB, Ferro JM, Lourenço LB.   +3 more
europepmc   +1 more source

Genetic Abnormalities and Clinical Management of Fetal Genitourinary System Anomalies in Eastern China

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To investigate the correlation between genetic abnormalities and fetal genitourinary (GU) anomalies in Eastern China and to provide assistance for the clinical management of fetuses with different types of GU anomalies. Five hundred forty‐five fetuses with GU anomalies were enrolled, undergoing karyotyping, copy number variation sequencing ...
Jie Liang, Jiebin Wu, Lin Zhang, Yunmeng Qi, Yi Wang, Xu Cao, Jingfang Zhai   +6 more
wiley   +1 more source

Whole-genome resequencing reveals chromosomal fusion-driven early stages of XY chromosomes evolution in the darkbarbel catfish (Tachysurus vachellii). [PDF]

Front Zool
Liu J, Tang M, Duan G, Wang H, Liu S, Nie L, Zhou H.   +6 more
europepmc   +1 more source

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

XhetRel: a pipeline for X heterozygosity and relatedness analysis of sequencing data. [PDF]

Bioinform Adv
Salman B, Bebek N, Uğur İşeri S.
europepmc   +1 more source