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18 results for Shafeghati,+Yousef

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ArticlesPeer ReviewedFull Text
Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation
Author / Creator:Noguchi, Masafumi ; Honsho, Masanori ; Abe, Yuichi ; Toyama, Ryusuke ; Niwa, Hajime ; Sato, Yoshiteru ; Ghaedi, Kamran ; Rahmanifar, Ali ; Shafeghati, Yousef ; Fujiki, Yukio
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2014-07, Vol.59 (7), p.387-392
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LMNA mutations in atypical Werner's syndrome
Author / Creator:Chen, Lishan ; Lee, Lin ; Kudlow, Brian A ; Dos Santos, Heloisa G ; Sletvold, Olav ; Shafeghati, Yousef ; Botha, Eleanor G ; Garg, Abhimanyu ; Hanson, Nancy B ; Martin, George M ; Mian, I Saira ; Kennedy, Brian K ; Oshima, Junko
Publisher:London: Elsevier Ltd
Journal title:The Lancet (British edition), 2003-08, Vol.362 (9382), p.440-445
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Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies
Author / Creator:Mohammadzadeh, Akbar ; Akbaroghli, Susan ; Aghaei-Moghadam, Ehsan ; Mahdieh, Nejat ; Badv, Reza Shervin ; Jamali, Payman ; Kariminejad, Roxana ; Chavoshzadeh, Zahra ; Ghasemi Firouzabadi, Saghar ; Mansour Ghanaie, Roxana ; Nozari, Ahoura ; Banihashemi, Sussan ; Hadipour, Fatemeh ; Hadipour, Zahra ; Kariminejad, Ariana ; Najmabadi, Hossein ; Shafeghati, Yousef ; Behjati, Farkhondeh
Publisher:Iran: Royan Institute of Iran
Journal title:Cell journal (Yakhteh), 2019-10, Vol.21 (3), p.337-349
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Erratum: Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation
Author / Creator:Noguchi, Masafumi ; Honsho, Masanori ; Abe, Yuichi ; Toyama, Ryusuke ; Niwa, Hajime ; Sato, Yoshiteru ; Ghaedi, Kamran ; Rahmanifar, Ali ; Shafeghati, Yousef ; Fujiki, Yukio
Publisher:London: Nature Publishing Group
Journal title:Journal of human genetics, 2014-07, Vol.59 (7), p.417-417
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Yunis-Varón syndrome: the first report of two Iranian cases
Author / Creator:Hadipour, Zahra ; Shafeghati, Yousef ; Hadipour, Fatemeh
Publisher:Iran: Tehran University of Medical Sciences
Journal title:Acta medica Iranica, 2014, Vol.52 (1), p.85-87
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Yunis-Varón Syndrome: The First Report of Two Iranian Cases Yunis-Varón Syndrome: The First Report of Two Iranian Cases
Author / Creator:Zahra Hadipour ; Yousef Shafeghati ; Fatemeh Hadipour
Publisher:Tehran University of Medical Sciences
Journal title:Acta medica Iranica, 2014-01, Vol.52 (1)
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Fraccaro Syndrome: Report of Two Iranian Cases: An Infant and an Adult in A Family Fraccaro Syndrome: Report of Two Iranian Cases: An Infant and an Adult in A Family
Author / Creator:Fatemeh Hadipour ; Yousef Shafeghati ; Eiman Bagherizadeh ; Farkhondeh Behjati ; Zahra Hadipour
Publisher:Tehran University of Medical Sciences
Journal title:Acta medica Iranica, 2013-12, Vol.51 (12)
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A molecular and clinical study of Larsen syndrome caused by mutations in FLNB
Author / Creator:Bicknell, Louise S ; Farrington-Rock, Claire ; Shafeghati, Yousef ; Rump, Patrick ; Alanay, Yasemin ; Alembik, Yves ; Al-Madani, Navid ; Firth, Helen ; Karimi-Nejad, Mohammad Hassan ; Kim, Chong Ae ; Leask, Kathryn ; Maisenbacher, Melissa ; Moran, Ellen ; Pappas, John G ; Prontera, Paolo ; de Ravel, Thomy ; Fryns, Jean-Pierre ; Sweeney, Elizabeth ; Fryer, Alan ; Unger, Sheila ; Wilson, L C ; Lachman, Ralph S ; Rimoin, David L ; Cohn, Daniel H ; Krakow, Deborah ; Robertson, Stephen P
Publisher:London: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2007-02, Vol.44 (2), p.89-98
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A rare triploidy case with long term survival : a case report study
Author / Creator:Zarbati, Nesa ; Chaichian, Shahla ; Saberi, S. Hoseinali ; Muhammadkhani, Nisrin ; Asami, Mahshad ; Hadipour, Fatimah ; Akhlaghdoust, Meisam ; Shafeghati, Yusuf ; Nikfar, Banafsheh ; Vasei, Narges ; Behjati, Farkhondeh ; Hadipour, Zahrah
Publisher:Dubai, United Arab Emirates: Iranian Hospital
Journal title:Iranian red crescent medical journal, 2017-07, Vol.19 (7), p.1-5
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ArticlesPeer ReviewedFull Text
Fraccaro syndrome: report of two Iranian cases: an infant and an adult in a family
Author / Creator:Hadipour, Fatemeh ; Shafeghati, Yousef ; Bagherizadeh, Eiman ; Behjati, Farkhondeh ; Hadipour, Zahra
Publisher:Iran: Tehran University of Medical Sciences
Journal title:Acta medica Iranica, 2013, Vol.51 (12), p.907
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Fanconi-Bickel syndrome versus osteogenesis imperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature
Author / Creator:Hadipour, Fatemeh ; Sarkheil, Peymaneh ; Noruzinia, Mehrdad ; Hadipour, Zahra ; Baghdadi, Taghi ; Shafeghati, Yousef
Publisher:India: Medknow Publications
Journal title:Indian journal of human genetics, 2013-01, Vol.19 (1), p.84-86
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Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature
Author / Creator:Shafeghati, Yousef ; Kahrizi, Kimia ; Najmabadi, Hossein ; Kuss, Andreas Walter ; Ropers, Hans-Hilger ; Tzschach, Andreas
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:European journal of pediatrics, 2010-12, Vol.169 (12), p.1535-1539
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Evaluation of Methylation Status in the 5'UTR Promoter Region of the DBC2 Gene as a Biomarker in Sporadic Breast Cancer Evaluation of Methylation Status in the 5'UTR Promoter Region of the DBC2 Gene a...
Author / Creator:Ali Bidmeshki-Pour ; Mousa Keyhanee ; Yousef Shafeghati ; Hamid Karbassian ; Mehrdad Noruzinia ; Mehri Hajikhan Mirzaei
Publisher:Royan Institute (ACECR), Tehran
Journal title:Cell journal (Yakhteh), 2012-01, Vol.14 (1), p.19-24
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Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation
Author / Creator:Behjati, Farkhondeh ; Ghasemi Firouzabadi, Saghar ; Sajedi, Firoozeh ; Kahrizi, Kimia ; Najafi, Mostafa ; Ebrahimizade Ghasemlou, Behruz ; Shafeghati, Yousef ; Behnia, Fatemeh ; Mohammadi Arya, Ali Reza ; Karimi, Hossein ; Hadipour, Fatemeh ; Hadipour, Zahra ; Jamali, Peyman ; Kariminejad, Roxana ; Darvish, Hossein ; Bahman, Ideh ; Bagherizadeh, Eiman ; Najmabadi, Hossein ; Vameghi, Roshanak
Publisher:Iran: Zamen Salamati Publishing
Journal title:Iranian red crescent medical journal, 2013-10, Vol.15 (10), p.e8221-e8221
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Prenatal diagnosis in a mentally retarded woman with mosaic ring chromosome 18
Author / Creator:Bagherizadeh, Eiman ; Behjati, Farkhondeh ; Saberi, Seyed Hoseinali ; Shafeghati, Yousef
Publisher:India: Medknow Publications on behalf of Indian Society of Human Genetics
Journal title:Indian journal of human genetics, 2011-05, Vol.17 (2), p.111-113
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Evaluation of Methylation Status in the 5'UTR Promoter Region of the DBC2 Gene as a Biomarker in Sporadic Breast Cancer
Author / Creator:Hajikhan Mirzaei, Mehri ; Noruzinia, Mehrdad ; Karbassian, Hamid ; Shafeghati, Yousef ; Keyhanee, Mousa ; Bidmeshki-Pour, Ali
Publisher:Iran: Royan Institute of Iran
Journal title:Cell journal (Yakhteh), 2012-01, Vol.14 (1), p.19-24
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ReportsFull Text
Prenatal diagnosis in a mentally retarded woman with mosaic ring chromosome 18
Author / Creator:Bagherizadeh, Eiman ; Behjati, Farkhondeh ; Saberi, Seyed Hoseinali ; Shafeghati, Yousef
Journal title:Indian journal of human genetics, 2011, Vol.17 (2), p.111-113
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ReportsFull Text
Fanconi-Bickel syndrome versus osteogenesis imperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature
Author / Creator:Hadipour, Fatemeh ; Sarkheil, Peymaneh ; Noruzinia, Mehrdad ; Hadipour, Zahra ; Baghdadi, Taghi ; Shafeghati, Yousef
Journal title:Indian journal of human genetics, 2013, Vol.19 (1), p.84-86
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Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation

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LMNA mutations in atypical Werner's syndrome

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Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies

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Erratum: Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation

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Yunis-Varón syndrome: the first report of two Iranian cases

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Yunis-Varón Syndrome: The First Report of Two Iranian Cases Yunis-Varón Syndrome: The First Report of Two Iranian Cases

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Fraccaro Syndrome: Report of Two Iranian Cases: An Infant and an Adult in A Family Fraccaro Syndrome: Report of Two Iranian Cases: An Infant and an Adult in A Family

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A molecular and clinical study of Larsen syndrome caused by mutations in FLNB

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A rare triploidy case with long term survival : a case report study

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Fraccaro syndrome: report of two Iranian cases: an infant and an adult in a family

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Fanconi-Bickel syndrome versus osteogenesis imperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature

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Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature

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Evaluation of Methylation Status in the 5'UTR Promoter Region of the DBC2 Gene as a Biomarker in Sporadic Breast Cancer Evaluation of Methylation Status in the 5'UTR Promoter Region of the DBC2 Gene a...

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Identification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation

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Prenatal diagnosis in a mentally retarded woman with mosaic ring chromosome 18

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Evaluation of Methylation Status in the 5'UTR Promoter Region of the DBC2 Gene as a Biomarker in Sporadic Breast Cancer

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Prenatal diagnosis in a mentally retarded woman with mosaic ring chromosome 18

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Fanconi-Bickel syndrome versus osteogenesis imperfeeta: An Iranian case with a novel mutation in glucose transporter 2 gene, and review of literature

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