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    Wyświetlanie 1-14 z 14
    Tytuł:
    The Tehran longitudinal family-based cardiometabolic cohort study sheds new light on dyslipidemia transmission patterns.
    Autorzy:
    Akbarzadeh M; Cellular and Molecular Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Riahi P; Cellular and Molecular Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Saeidian AH; Center for Applied Genomics (CAG), Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Abramson Building, Philadelphia, PA, 19104, USA.
    Zarkesh M; Cellular and Molecular Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Masjoudi S; Cellular and Molecular Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Asgarian S; Cellular and Molecular Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Guity K; Cellular and Molecular Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Moheimani H; Department of Surgery, University of Pittsburgh, Pittsburgh, PA, USA.
    Masoudi H; Cellular and Molecular Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Roudbar MA; Department of Animal Science, Safiabad-Dezful Agricultural and Natural Resources Research and Education Center, Agricultural Research, Education & Extension Organization (AREEO), Dezful, Iran.
    Khalili D; Prevention of Metabolic Disorders Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Hosseinpanah F; Obesity Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Barzin M; Obesity Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Hogan CT; Division of Hepatology, Temple University Hospital, Philadelphia, PA, USA.
    Hakonarson H; Center for Applied Genomics (CAG), Children's Hospital of Philadelphia, 3615 Civic Center Blvd, Abramson Building, Philadelphia, PA, 19104, USA.; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Division of Pulmonary Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
    Hedayati M; Cellular and Molecular Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Daneshpour MS; Cellular and Molecular Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Azizi F; Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran. .
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    Źródło:
    Scientific reports [Sci Rep] 2024 Feb 27; Vol. 14 (1), pp. 4739. Date of Electronic Publication: 2024 Feb 27.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Dyslipidemias*/epidemiology
    Dyslipidemias*/genetics
    Cardiovascular Diseases*/epidemiology
    Cardiovascular Diseases*/genetics
    Male ; Humans ; Female ; Cohort Studies ; Bayes Theorem ; Likelihood Functions ; Iran/epidemiology ; Triglycerides ; Cholesterol, HDL ; Risk Factors
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development.
    Autorzy:
    Liu Y; Center for Applied Genomics (CAG), Children's Hospital of Philadelphia, 3615 Civic Center Blvd Abramson Building, Philadelphia, PA, 19104, USA. .
    Qu HQ; Center for Applied Genomics (CAG), Children's Hospital of Philadelphia, 3615 Civic Center Blvd Abramson Building, Philadelphia, PA, 19104, USA.
    Chang X; Center for Applied Genomics (CAG), Children's Hospital of Philadelphia, 3615 Civic Center Blvd Abramson Building, Philadelphia, PA, 19104, USA.
    Mentch FD; Center for Applied Genomics (CAG), Children's Hospital of Philadelphia, 3615 Civic Center Blvd Abramson Building, Philadelphia, PA, 19104, USA.
    Qiu H; Center for Applied Genomics (CAG), Children's Hospital of Philadelphia, 3615 Civic Center Blvd Abramson Building, Philadelphia, PA, 19104, USA.
    Wang X; Center for Applied Genomics (CAG), Children's Hospital of Philadelphia, 3615 Civic Center Blvd Abramson Building, Philadelphia, PA, 19104, USA.
    Saeidian AH; Center for Applied Genomics (CAG), Children's Hospital of Philadelphia, 3615 Civic Center Blvd Abramson Building, Philadelphia, PA, 19104, USA.
    Watson D; Center for Applied Genomics (CAG), Children's Hospital of Philadelphia, 3615 Civic Center Blvd Abramson Building, Philadelphia, PA, 19104, USA.; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
    Glessner J; Center for Applied Genomics (CAG), Children's Hospital of Philadelphia, 3615 Civic Center Blvd Abramson Building, Philadelphia, PA, 19104, USA.; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA.
    Hakonarson H; Center for Applied Genomics (CAG), Children's Hospital of Philadelphia, 3615 Civic Center Blvd Abramson Building, Philadelphia, PA, 19104, USA. .; Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104, USA. .; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. .; Division of Pulmonary Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. .; Faculty of Medicine, University of Iceland, Reykjavik, Iceland. .
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    Źródło:
    Molecular cancer [Mol Cancer] 2023 Aug 05; Vol. 22 (1), pp. 126. Date of Electronic Publication: 2023 Aug 05.
    Typ publikacji:
    Letter; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
    MeSH Terms:
    RNA Splicing*
    Neoplasms*/genetics
    Humans ; Mutation ; Exons ; Genomics ; Introns
    Raport
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.
    Autorzy:
    Ralph D; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.; Genetics, Genomics and Cancer Biology Ph.D. Program, Jefferson College of Life Sciences, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.; PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.
    Nitschke Y; Münster University Children's Hospital, Münster, Germany.
    Levine MA; Division of Endocrinology and Diabetes, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America.
    Caffet M; PXE International, Inc., Damascus, Maryland, United States of America.
    Wurst T; PXE International, Inc., Damascus, Maryland, United States of America.
    Saeidian AH; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.; Genetics, Genomics and Cancer Biology Ph.D. Program, Jefferson College of Life Sciences, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.
    Youssefian L; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.
    Vahidnezhad H; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.
    Terry SF; PXE International, Inc., Damascus, Maryland, United States of America.
    Rutsch F; Münster University Children's Hospital, Münster, Germany.
    Uitto J; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.; PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.
    Li Q; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.; PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania, United States of America.
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    Źródło:
    PLoS genetics [PLoS Genet] 2022 Apr 28; Vol. 18 (4), pp. e1010192. Date of Electronic Publication: 2022 Apr 28 (Print Publication: 2022).
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Pseudoxanthoma Elasticum*/genetics
    Vascular Calcification*/genetics
    Genetic Heterogeneity ; Humans ; Multidrug Resistance-Associated Proteins/genetics ; Mutation ; Phosphoric Diester Hydrolases/genetics ; Phosphoric Diester Hydrolases/metabolism ; Pyrophosphatases/genetics ; Pyrophosphatases/metabolism
    SCR Disease Name:
    Arterial calcification of infancy
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility.
    Autorzy:
    Vahidnezhad H; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA.; Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
    Youssefian L; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA.; Genetics, Genomics and Cancer Biology PhD Program, Thomas Jefferson University, Philadelphia, PA, USA.; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
    Faghankhani M; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA.
    Mozafari N; Skin Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Saeidian AH; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA.; Genetics, Genomics and Cancer Biology PhD Program, Thomas Jefferson University, Philadelphia, PA, USA.
    Niaziorimi F; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA.
    Abdollahimajd F; Skin Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Sotoudeh S; Department of Dermatology, Children's Medical Center, Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
    Rajabi F; Skin Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Mirsafaei L; Cardiology Ward, Imam Sajjad Hospital, Mazandaran University of Medical Sciences, Mazandaran, Iran.
    Sani ZA; CMR Department, Rajaei Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran.
    Liu L; Viapath, St Thomas' Hospital, London, UK.
    Guy A; Viapath, St Thomas' Hospital, London, UK.
    Zeinali S; Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.; Kawsar Human Genetics Research Center, Tehran, Iran.
    Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran.
    Ho RT; Division of Cardiology, Department of Medicine, Thomas Jefferson University Hospital, Philadelphia, PA, USA.
    McGrath JA; St John's Institute of Dermatology, King's College London, Guy's Campus, London, UK.
    Uitto J; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA. .; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA. .
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    Źródło:
    Scientific reports [Sci Rep] 2020 Dec 10; Vol. 10 (1), pp. 21622. Date of Electronic Publication: 2020 Dec 10.
    Typ publikacji:
    Case Reports; Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Alleles*
    Arrhythmogenic Right Ventricular Dysplasia/*genetics
    Skin/*physiopathology
    Adolescent ; Child ; Child, Preschool ; Cohort Studies ; Female ; Homozygote ; Humans ; Male ; Mutation ; Young Adult ; gamma Catenin/genetics
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    The matriptase-prostasin proteolytic cascade in dermatologic diseases.
    Autorzy:
    Touati A; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.
    Saeidian AH; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.
    Youssefian L; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
    Faghankhani M; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.
    Niaziorimi F; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.
    Pajouhanfar S; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.
    Vahidnezhad H; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.; Biotechnology Research Center, Department of Molecular Medicine, Pasteur Institute of Iran, Tehran, Iran.
    Uitto J; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.; Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.
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    Źródło:
    Experimental dermatology [Exp Dermatol] 2020 Jul; Vol. 29 (7), pp. 580-587. Date of Electronic Publication: 2020 Jun 08.
    Typ publikacji:
    Journal Article; Review
    MeSH Terms:
    Epidermis/*enzymology
    Serine Endopeptidases/*metabolism
    Skin Diseases/*enzymology
    Animals ; Biological Transport ; Calcium/metabolism ; Filaggrin Proteins/metabolism ; Humans ; Kallikreins/metabolism ; Serine Peptidase Inhibitor Kazal-Type 5/metabolism ; Sodium/metabolism
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Linear basal cell nevus with a novel mosaic PTCH1 mutation.
    Autorzy:
    Saeidian AH; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.
    Cohen-Nowak A; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.
    O'Donnell M; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.
    Shalabi D; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.
    McGuinn KP; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.
    Youssefian L; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.
    Vahidnezhad H; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.
    Niaziorimi F; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.
    Dasgeb B; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.
    Kasper DA; Dermatology and Skin Cancer Institute, Lansdale, PA, USA.
    Lee JB; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.
    Uitto J; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.
    Nikbakht N; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.
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    Źródło:
    Experimental dermatology [Exp Dermatol] 2020 Jun; Vol. 29 (6), pp. 531-534. Date of Electronic Publication: 2020 May 14.
    Typ publikacji:
    Case Reports; Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Mosaicism*
    Carcinoma, Basal Cell/*genetics
    Patched-1 Receptor/*genetics
    Skin Neoplasms/*genetics
    Adult ; Carcinoma, Basal Cell/pathology ; Female ; Heterozygote ; Humans ; Mutation ; Skin Neoplasms/pathology
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis.
    Autorzy:
    Uitto J
    Youssefian L
    Saeidian AH
    Vahidnezhad H
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    Źródło:
    Acta dermato-venereologica [Acta Derm Venereol] 2020 Mar 25; Vol. 100 (7), pp. adv00095.
    Typ publikacji:
    Journal Article; Review
    MeSH Terms:
    Ichthyosis/*genetics
    Alopecia/genetics ; Cell Adhesion/genetics ; Cell Communication/genetics ; Cholangitis, Sclerosing/genetics ; Claudin-1/deficiency ; Claudin-1/genetics ; Humans ; Ichthyosiform Erythroderma, Congenital/genetics ; Ichthyosis/pathology ; Ichthyosis/physiopathology ; Leukocyte Disorders/genetics ; Lipid Metabolism, Inborn Errors/genetics ; Muscular Diseases/genetics ; Mutation ; Phenotype ; Skin Physiological Phenomena/genetics
    SCR Disease Name:
    Chanarin-Dorfman Syndrome; Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Hypotrichosis with juvenile macular dystrophy: Combination of whole-genome sequencing and genome-wide homozygosity mapping identifies a large deletion in CDH3 initially undetected by whole-exome sequencing-A lesson from next-generation sequencing.
    Autorzy:
    Saeidian AH; Department of Dermatology and Cutaneous Biology, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.; Genetics, Genomics and Cancer Biology Ph.D. Program, Thomas Jefferson University, Philadelphia, PA, USA.
    Vahidnezhad H; Department of Dermatology and Cutaneous Biology, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.; Biotechnology Research Center, Department of Molecular Medicine, Pasteur Institute of Iran, Tehran, Iran.
    Youssefian L; Department of Dermatology and Cutaneous Biology, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.; Genetics, Genomics and Cancer Biology Ph.D. Program, Thomas Jefferson University, Philadelphia, PA, USA.; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
    Sotudeh S; Department of Dermatology, Children's Medical Center, Pediatric Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
    Sargazi M; Alzahra Eye Hospital Research Center, Zahedan University of Medical Sciences, Zahedan, Iran.
    Zeinali S; Biotechnology Research Center, Department of Molecular Medicine, Pasteur Institute of Iran, Tehran, Iran.; Kawsar Human Genetics Research Center, Tehran, Iran.
    Uitto J; Department of Dermatology and Cutaneous Biology, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA, USA.
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    Źródło:
    Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2019 Nov; Vol. 7 (11), pp. e975. Date of Electronic Publication: 2019 Sep 27.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Sequence Deletion*
    Cadherins/*genetics
    High-Throughput Nucleotide Sequencing/*methods
    Hypotrichosis/*congenital
    Macular Degeneration/*genetics
    Macular Degeneration/*pathology
    Exome Sequencing/*methods
    Whole Genome Sequencing/*methods
    Adolescent ; Chromosome Mapping ; DNA Mutational Analysis/methods ; Female ; Homozygote ; Humans ; Hypotrichosis/genetics ; Hypotrichosis/pathology ; Male ; Pedigree
    SCR Disease Name:
    Juvenile macular degeneration and hypotrichosis
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa.
    Autorzy:
    Vahidnezhad H; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.; Biotechnology Research Center, Department of Molecular Medicine, Pasteur Institute of Iran, Tehran, Iran.
    Youssefian L; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.; Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran.
    Saeidian AH; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.
    Zeinali S; Biotechnology Research Center, Department of Molecular Medicine, Pasteur Institute of Iran, Tehran, Iran.; Kawsar Human Genetics Research Center, Tehran, Iran.
    Touati A; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.; Drexel University College of Medicine, Philadelphia, PA, USA.
    Abiri M; Kawsar Human Genetics Research Center, Tehran, Iran.; Department of Medical Genetics and Molecular Biology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
    Sotoudeh S; Department of Dermatology, Children's Medical Center, Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
    Norouz-Zadeh S; Kawsar Human Genetics Research Center, Tehran, Iran.; Department of Biology, Islamic Azad University, Arsanjan Branch, Arsanjan, Iran.
    Amirinezhad N; Kawsar Human Genetics Research Center, Tehran, Iran.; Department of Biology, Islamic Azad University, Arsanjan Branch, Arsanjan, Iran.
    Mozafari N; Skin Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
    Daneshpazhooh M; Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran.
    Mahmoudi H; Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran.
    Hamid M; Biotechnology Research Center, Department of Molecular Medicine, Pasteur Institute of Iran, Tehran, Iran.
    Bradfield JP; Center for Applied Genomics, Abramson Pediatric Research Center, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
    Kim CE; Center for Applied Genomics, Abramson Pediatric Research Center, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
    Hakonarson H; Center for Applied Genomics, Abramson Pediatric Research Center, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
    Uitto J; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.
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    Źródło:
    Experimental dermatology [Exp Dermatol] 2019 Oct; Vol. 28 (10), pp. 1118-1121. Date of Electronic Publication: 2018 Feb 19.
    Typ publikacji:
    Letter; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Consanguinity*
    Genome-Wide Association Study*
    Microsatellite Repeats*
    Polymorphism, Single Nucleotide*
    Epidermolysis Bullosa/*genetics
    Chromosome Mapping ; Epidermolysis Bullosa/diagnosis ; Female ; Genes, Recessive ; High-Throughput Nucleotide Sequencing ; Homozygote ; Humans ; Male ; Sequence Analysis, DNA
    Raport
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    First report of COL7A1 mutations in two patients with recessive dystrophic epidermolysis bullosa from Peru.
    Autorzy:
    Saeidian AH; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.
    Youssefian L; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.
    Rosales-Solis GM; Pediatrics Department, University Hospital 'Dr. José Eleuterio González', Universidad Autónoma de Nuevo León, Monterrey, México.
    Vahidnezhad H; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.; Biotechnology Research Center, Department of Molecular Medicine, Pasteur Institute of Iran, Tehran, Iran.
    Atanasova VS; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.
    Uitto J; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.
    South AP; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.
    Salas-Alanis JC; Basic Sciences Department, Medicine School, Universidad de Monterrey, Ignacio Morones Prieto 4500 Pte. Jesús M. Garza, 66238, San Pedro Garza García, NL, Mexico.
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    Źródło:
    Clinical and experimental dermatology [Clin Exp Dermatol] 2018 Aug; Vol. 43 (6), pp. 719-722. Date of Electronic Publication: 2018 Feb 09.
    Typ publikacji:
    Case Reports; Letter
    MeSH Terms:
    Collagen Type VII/*genetics
    Epidermolysis Bullosa Dystrophica/*genetics
    Skin Diseases, Vesiculobullous/*genetics
    Adult ; Blister/pathology ; Child ; DNA Mutational Analysis ; Epidermolysis Bullosa Dystrophica/blood ; Epidermolysis Bullosa Dystrophica/pathology ; Female ; Genes, Recessive ; Humans ; Male ; Mutation ; Peru/epidemiology ; Polymorphism, Single Nucleotide/genetics ; Skin Diseases, Vesiculobullous/pathology
    Raport
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Seven novel COL7A1 mutations identified in patients with recessive dystrophic epidermolysis bullosa from Mexico.
    Autorzy:
    Saeidian AH; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.
    Youssefian L; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.
    Moreno Trevino MG; Basic Sciences Department, Medicine School, University of Monterrey, Monterrey, Mexico.
    Fortuna G; Department of Diagnostic Science, Louisiana State University School of Dentistry, New Orleans, LA, USA.
    Vahidnezhad H; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.; Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
    Atanasova VS; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.
    Uitto J; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.
    Salas-Alanis JC; Basic Sciences Department, Medicine School, University of Monterrey, Monterrey, Mexico.
    South AP; Department of Dermatology and Cutaneous Biology, Thomas Jefferson University, Philadelphia, PA, USA.
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    Źródło:
    Clinical and experimental dermatology [Clin Exp Dermatol] 2018 Jul; Vol. 43 (5), pp. 579-584. Date of Electronic Publication: 2018 Feb 23.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Collagen Type VII/*genetics
    Epidermolysis Bullosa Dystrophica/*genetics
    High-Throughput Nucleotide Sequencing ; Humans ; Mexico ; Mutation
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series.
    Autorzy:
    Youssefian L; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA.; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
    Vahidnezhad H; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA.; Biotechnology Research Center, Department of Molecular Medicine, Pasteur Institute of Iran, Tehran, Iran.
    Touati A; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA.; Drexel University College of Medicine, Philadelphia, PA, USA.
    Ziaee V; Department of Pediatrics, Children's Medical Center, Pediatrics Center of Excellence, Tehran, Iran.
    Saeidian AH; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA.
    Pajouhanfar S; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA.
    Zeinali S; Biotechnology Research Center, Department of Molecular Medicine, Pasteur Institute of Iran, Tehran, Iran.; Kawsar Human Genetics Research Center, Tehran, Iran.
    Uitto J; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA. .
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    Źródło:
    BMC medical genetics [BMC Med Genet] 2018 May 25; Vol. 19 (1), pp. 87. Date of Electronic Publication: 2018 May 25.
    Typ publikacji:
    Case Reports; Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Frameshift Mutation*
    Point Mutation*
    Hyaline Fibromatosis Syndrome/*genetics
    Receptors, Peptide/*genetics
    Child, Preschool ; Consanguinity ; Genetic Association Studies ; Humans ; Infant ; Pedigree ; Sequence Analysis, DNA
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Development and implementation of a novel panel consisting 20 markers for the detection of genetic causes of male infertility.
    Autorzy:
    Bahrami Zadegan S; Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran.; Dr. Zeinali's Medical Genetics Laboratory, Kawsar Human Genetics Research Center, Tehran, Iran.
    Dabbagh Bagheri S; Dr. Zeinali's Medical Genetics Laboratory, Kawsar Human Genetics Research Center, Tehran, Iran.
    Joudaki A; Dr. Zeinali's Medical Genetics Laboratory, Kawsar Human Genetics Research Center, Tehran, Iran.
    Samiee Aref MH; Department of Biotechnology, College of Science, University of Tehran, Tehran, Iran.; Dr. Zeinali's Medical Genetics Laboratory, Kawsar Human Genetics Research Center, Tehran, Iran.
    Saeidian AH; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, PA, USA.
    Abiri M; Dr. Zeinali's Medical Genetics Laboratory, Kawsar Human Genetics Research Center, Tehran, Iran.; Department of Medical Genetics and Molecular Biology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
    Zeinali S; Dr. Zeinali's Medical Genetics Laboratory, Kawsar Human Genetics Research Center, Tehran, Iran.; Department of Molecular Medicine, Pasteur Institute of Iran, Biotechnology Research Center, Tehran, Iran.
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    Źródło:
    Andrologia [Andrologia] 2017 Dec 28. Date of Electronic Publication: 2017 Dec 28.
    Typ publikacji:
    Journal Article
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome.
    Autorzy:
    Youssefian L; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA.; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
    Touati A; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA.; Drexel University College of Medicine, Philadelphia, PA, USA.
    Saeidian AH; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA.
    Zargari O; Dana Clinic, Rasht, Iran.
    Zeinali S; Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.; Kawsar Human Genetics Research Center, Tehran, Iran.
    Vahidnezhad H; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA.; Molecular Medicine Department, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
    Uitto J; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA. .
    Pokaż więcej
    Źródło:
    Orphanet journal of rare diseases [Orphanet J Rare Dis] 2017 Dec 06; Vol. 12 (1), pp. 176. Date of Electronic Publication: 2017 Dec 06.
    Typ publikacji:
    Case Reports; Journal Article
    MeSH Terms:
    Hypotrichosis/*diagnosis
    Hypotrichosis/*genetics
    Ichthyosis/*diagnosis
    Ichthyosis/*genetics
    Mutation, Missense/*genetics
    Serine Endopeptidases/*genetics
    Adolescent ; Humans ; Male ; Pedigree ; Syndrome
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
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