Lack of Association between ESR1 and CYP1A1 Gene Polymorphisms and Susceptibility to Uterine Leiomyoma in Female Patients of Iranian Descent

Autor: Taghizade Mortezaee F, Ma, Tabatabaiefar, Hashemzadeh Chaleshtori M, sepideh miraj

Publikováno v: Cell Journal, Vol 16, Iss 2, Pp 225-230 (2014)
Europe PubMed Central
Cell Journal (Yakhteh)

Uterine leiomyoma (UL) is the most common benign smooth muscle cell tumor with as yet unknown etiology and pathogenesis. This study was carried out to investigate the association of ESR1-351 A>G, ESR1 -397 T>C and CYP1A1 (Ile462Val) polymorphisms wit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::6f1b5a8ec31e231e0d351a0aefd2fdb8

A Novel Homozygote Pathogenic Variant in the DIAPH1 Gene Associated With Seizures, Cortical Blindness, and Microcephaly Syndrome (SCBMS): Report of a Family and Literature Review.

Autor: Esmaeilzadeh E; Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran., Biglari S; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Mosallaei M; Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran., Khorshid HRK; Genetics Research Center, University of Social Welfare and Rehabilitation Science, Tehran, Iran., Vahidnezhad H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Tabatabaiefar MA; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Nov; Vol. 12 (11), pp. e70031.

Clinical characterizations and molecular genetic study of two co-segregating variants in PDZD7 and PDE6C genes leading simultaneously to non-syndromic hearing loss and achromatopsia.

Autor: Nouri Z; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.; Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran., Sarmadi A; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.; Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran., Narrei S; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.; Department of Research and Development, Harmonic Medical Genetics Lab, Isfahan, Iran., Kianersi H; Isfahan Eye Research Center, Isfahan University of Medical Sciences, Isfahan, Iran., Kianersi F; Department of Ophthalmology, Isfahan University of Medical Sciences, Isfahan, Iran., Tabatabaiefar MA; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran. tabatabaiefar@med.mui.ac.ir.; Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Non-Communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran. tabatabaiefar@med.mui.ac.ir.; University of Medical Sciences, Isfahan, 81746-73461, Iran. tabatabaiefar@med.mui.ac.ir.

Publikováno v: BMC medical genomics [BMC Med Genomics] 2024 Jul 01; Vol. 17 (1), pp. 173. Date of Electronic Publication: 2024 Jul 01.

RARS1-related hypomyelinating leukodystrophy-9 (HLD-9) in two distinct Iranian families: Case report and literature review.

Autor: Biglari S; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran., Vahidnezhad H; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania, Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Tabatabaiefar MA; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran., Khorram Khorshid HR; Genetics Research Center, University of Social Welfare and Rehabilitation Science, Tehran, Iran., Esmaeilzadeh E; Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Apr; Vol. 12 (4), pp. e2435.

Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.

Autor: Biglari S; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA., Moghaddam AS; Department of Genetics, Faculty of Biological Science, North Tehran Branch, Islamic Azad University, Tehran, Iran., Tabatabaiefar MA; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran., Sherkat R; Immunodeficiency Diseases Research Center, Isfahan University of Medical Sciences, Isfahan, Iran., Youssefian L; Department of Pathology and Laboratory Medicine, UCLA Clinical Genomics Center, David Geffen School of Medicine at UCLA, Los Angeles, CA., Saeidian AH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA., Vahidnezhad F; UCSC Silicon Valley Extension, University of California, Santa Cruz, CA., Tsoi LC; Department of Dermatology, University of Michigan, Ann Arbor, MI., Gudjonsson JE; Department of Dermatology, University of Michigan, Ann Arbor, MI., Hakonarson H; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA., Casanova JL; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France; Imagine Institute, Paris Cité University, France; Department of Pediatrics, Necker Hospital for Sick Children, Paris, France, EU; Howard Hughes Medical Institute, Chevy Chase, MD., Béziat V; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France; Imagine Institute, Paris Cité University, France., Jouanguy E; St Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France; Imagine Institute, Paris Cité University, France., Vahidnezhad H; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA. Electronic address: vahidnezhh@chop.edu.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Feb; Vol. 26 (2), pp. 101028. Date of Electronic Publication: 2023 Nov 14.