Results 181 to 190 of about 444,809 (263)

An <i>Adamts2</i> Knock-In Model of Dermatosparaxis Ehlers-Danlos Syndrome Reveals Defective Collagen Maturation. [PDF]

Biomedicines
Petrucci-Nelson T, Weintraub A, Huff M, Mach E, Gensemer C, Virgin C, Osterhaus M, Byerly K, Bistran E, Severance S, Loizzi B, Guz J, Tang FL, Griggs M, Patel S, Norris RA.   +15 more
europepmc   +1 more source

Chromosomal Abnormalities, Drug Sensitivity and Resistance in Hematological Malignancies: A Comprehensive Overview by the Francophone Group of Hematological Cytogenetics (GFCH)

American Journal of Hematology, EarlyView.
ABSTRACT Chromosomal abnormalities have a major clinical impact on hematological malignancies, particularly with regard to treatment strategies. To preserve and consolidate fundamental knowledge in this rapidly evolving field, the Francophone Group of Hematological Cytogenetics (Groupe Francophone de Cytogénétique Hématologique, GFCH) conducted a ...
Florence Nguyen‐Khac, Audrey Bidet, Elise Chapiro, Nathalie Douet‐Guilbert, Jean‐Baptiste Gaillard, Nada Assaf, Nathalie Auger, Hend Chaker, Jasmine Chauzeix, Inge Govaerts, Hippolyte Guérineau, Christine Lefebvre, Pauline Roynard, Hélène Guermouche, Lucienne Michaux, Marie‐Bérengère Troadec, Lauren Véronèse   +16 more
wiley   +1 more source

Clinical Practice of Single-Molecule Real-Time Sequencing in the Diagnosis of Spinal Muscular Atrophy. [PDF]

Mol Genet Genomic Med
Wei H, Zheng YW, Zhang NK, Gao TL, Zheng JX, Li TY, Hong SR.   +6 more
europepmc   +1 more source

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

Reply to Tarchini et al.: Evidence for a GPR156 role in central stress responses in addition to its inner-ear function. [PDF]

Proc Natl Acad Sci U S A
Miller BR, Alessandri-Haber N, Gonzaga-Jauregui C, Brigatti KW, Strauss KA.   +4 more
europepmc   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Impact of CYP3A5 genotype on tacrolimus pharmacokinetics and clinical outcomes in pediatric patients with Henoch-Schönlein purpura nephritis. [PDF]

Pharmacogenet Genomics
Li H, Li N, Tang X, Li F, Ren D, Zong J, Tu C, Li L, Zhang L, Yu S.   +9 more
europepmc   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Classic Ataxia-Telangiectasia associated with a homozygous missense ATM variant: A case report. [PDF]

Mol Genet Metab Rep
Al-Frejat Z, Azzam L, Hanna G, Hamza DA, Al Khayer G.   +4 more
europepmc   +1 more source

A Novel NR3C1 Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome.
Sufang Yun, Zhifeng Zhu, Fengye Zhou, Ying Liu, Chunfang Liang, Haitao Ju, Lin Lu, Zhaoli Yan   +7 more
wiley   +1 more source