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54 results for Kariminejad,+Ariana

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Identifying the causes of recurrent pregnancy loss in consanguineous couples using whole exome sequencing on the products of miscarriage with no chromosomal abnormalities
Author / Creator:Najafi, Kimia ; Mehrjoo, Zohreh ; Ardalani, Fariba ; Ghaderi-Sohi, Siavash ; Kariminejad, Ariana ; Kariminejad, Roxana ; Najmabadi, Hossein
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-03, Vol.11 (1), p.6952-6952, Article 6952
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Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma
Author / Creator:Deml, Brett ; Reis, Linda M ; Lemyre, Emmanuelle ; Clark, Robin D ; Kariminejad, Ariana ; Semina, Elena V
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2016-04, Vol.24 (4), p.535-541
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COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum
Author / Creator:Hesami, Omid ; Ramezani, Mahtab ; Ghasemi, Aida ; Fatehi, Farzad ; Okhovat, Ali Asghar ; Ziaadini, Bentolhoda ; Kariminejad, Ariana ; Nafissi, Shahriar
Publisher:England: BioMed Central
Journal title:Orphanet journal of rare diseases, 2024-03, Vol.19 (1), p.113-113, Article 113
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The genetic basis of DOORS syndrome: an exome-sequencing study
Author / Creator:Campeau, Philippe M, MD ; Kasperaviciute, Dalia, PhD ; Lu, James T, PhD ; Burrage, Lindsay C, PhD ; Kim, Choel, PhD ; Hori, Mutsuki, MD ; Powell, Berkley R, MD ; Stewart, Fiona, MBBS ; Félix, Têmis Maria, PhD ; van den Ende, Jenneke, MD ; Wisniewska, Marzena, PhD ; Kayserili, Hülya, MD ; Rump, Patrick, PhD ; Nampoothiri, Sheela, MSc ; Aftimos, Salim, MD ; Mey, Antje, MD ; Nair, Lal D V, MD ; Begleiter, Michael L, MSc ; De Bie, Isabelle, PhD ; Meenakshi, Girish, MBBS ; Murray, Mitzi L, MD ; Repetto, Gabriela M, MD ; Golabi, Mahin, MD ; Blair, Edward, MD ; Male, Alison, MD ; Giuliano, Fabienne, MD ; Kariminejad, Ariana, MD ; Newman, William G ; Bhaskar, Sanjeev S ; Dickerson, Jonathan E ; Kerr, Bronwyn ; Banka, Siddharth ; Giltay, Jacques C, PhD ; Wieczorek, Dagmar, MD ; Tostevin, Anna, MSc ; Wiszniewska, Joanna, MD ; Cheung, Sau Wai, Prof ; Hennekam, Raoul C, Prof ; Gibbs, Richard A, Prof ; Lee, Brendan H, Prof ; Sisodiya, Sanjay M, Prof
Publisher:England: Elsevier Ltd
Journal title:Lancet neurology, 2014, Vol.13 (1), p.44-58
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Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility
Author / Creator:Vahidnezhad, Hassan ; Youssefian, Leila ; Faghankhani, Masoomeh ; Mozafari, Nikoo ; Saeidian, Amir Hossein ; Niaziorimi, Fatemeh ; Abdollahimajd, Fahimeh ; Sotoudeh, Soheila ; Rajabi, Fateme ; Mirsafaei, Liaosadat ; Sani, Zahra Alizadeh ; Liu, Lu ; Guy, Alyson ; Zeinali, Sirous ; Kariminejad, Ariana ; Ho, Reginald T. ; McGrath, John A. ; Uitto, Jouni
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2020-12, Vol.10 (1), p.21622-21622, Article 21622
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Alx4 relays sequential FGF signaling to induce lacrimal gland morphogenesis
Author / Creator:Garg, Ankur ; Bansal, Mukesh ; Gotoh, Noriko ; Feng, Gen-Sheng ; Zhong, Jian ; Wang, Fen ; Kariminejad, Ariana ; Brooks, Steven ; Zhang, Xin
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2017-10, Vol.13 (10), p.e1007047-e1007047
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Comprehensive copy number analysis of spinal muscular atrophy among the Iranian population
Author / Creator:Khanbazi, Ali ; Beheshtian, Maryam ; Azad, Maryam ; Akbari Kelishomi, Masoumeh ; Afroozan, Fariba ; Fatehi, Fatemeh ; Noudehi, Khadijeh ; Zamanian Najafabadi, Shima ; Omrani, Mohammadamin ; Habibi, Haleh ; Taghdiri, Maryam ; Abdi Rad, Isa ; Nafissi, Shahriar ; Jankhah, Aria ; Yazdan, Hilda ; Daneshmand, Parvaneh ; Saberi, Seyed Hosseinali ; Kahrizi, Kimia ; Kariminejad, Ariana ; Najmabadi, Hossein
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2024-12, Vol.14 (1), p.29880-11, Article 29880
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DOK7 congenital myasthenic syndrome: case series and review of literature
Author / Creator:Ziaadini, Bentolhoda ; Ghaderi Yazdi, Bardyia ; Dirandeh, Elham ; Boostani, Reza ; Karimi, Narges ; Panahi, Akram ; Kariminejad, Ariana ; Fadaee, Mahsa ; Ahangari, Fatemeh ; Nafissi, Shahriar
Publisher:England: BioMed Central Ltd
Journal title:BMC neurology, 2024-06, Vol.24 (1), p.211-9, Article 211
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Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts
Author / Creator:Deml, Brett ; Kariminejad, Ariana ; Borujerdi, Razieh H. R. ; Muheisen, Sanaa ; Reis, Linda M. ; Semina, Elena V.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2015-02, Vol.11 (2), p.e1005002-e1005002
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Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails
Author / Creator:Kariminejad, Ariana ; Ajeawung, Norbert Fonya ; Bozorgmehr, Bita ; Dionne-Laporte, Alexandre ; Molidperee, Sirinart ; Najafi, Kimia ; Gibbs, Richard A ; Lee, Brendan H ; Hennekam, Raoul C ; Campeau, Philippe M
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2017-04, Vol.62 (4), p.465-471
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Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation
Author / Creator:Rohrbach, Marianne ; Vandersteen, Anthony ; Yiş, Uluç ; Serdaroglu, Gul ; Ataman, Esra ; Chopra, Maya ; Garcia, Sixto ; Jones, Kristi ; Kariminejad, Ariana ; Kraenzlin, Marius ; Marcelis, Carlo ; Baumgartner, Matthias ; Giunta, Cecilia
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2011-06, Vol.6 (1), p.46-46
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Mutation profile of BBS genes in Iranian patients with Bardet–Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes
Author / Creator:Fattahi, Zohreh ; Rostami, Parvin ; Najmabadi, Amin ; Mohseni, Marzieh ; Kahrizi, Kimia ; Akbari, Mohammad Reza ; Kariminejad, Ariana ; Najmabadi, Hossein
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2014-07, Vol.59 (7), p.368-375
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Core myopathy in two siblings with a biallelic variant in the CACNA1S gene—A case series study
Author / Creator:Khoeini, Tara ; Kariminejad, Ariana ; Nilipour, Yalda ; Ariaei, Armin ; Najmabadi, Hossein ; Arabshahi, Mojtaba ; Faraji Zonooz, Mehrshid ; Haghi Ashtiani, Bahram
Publisher:England: John Wiley & Sons, Inc
Journal title:Clinical case reports, 2024-08, Vol.12 (8), p.e9251-n/a
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Bi‐allelic loss of function variant in the NRCAM gene is associated with motor‐predominant axonal polyneuropathy; the second report
Author / Creator:Elahi, Zohreh ; Soveyzi, Mohamad ; Nafissi, Shahriar ; Nilipour, Yalda ; Goleyjani Moghadam, Masoumeh ; Keshavarz, Elham ; Kariminejad, Ariana ; Najmabadi, Hossein ; Fattahi, Zohreh
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2023-04, Vol.11 (4), p.e2131-n/a
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Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population
Author / Creator:Abolhassani, Ayda ; Fattahi, Zohreh ; Beheshtian, Maryam ; Fadaee, Mahsa ; Vazehan, Raheleh ; Ahangari, Fatemeh ; Dehdahsi, Shima ; Faraji Zonooz, Mehrshid ; Parsimehr, Elham ; Kalhor, Zahra ; Peymani, Fatemeh ; Mozaffarpour Nouri, Maryam ; Babanejad, Mojgan ; Noudehi, Khadijeh ; Fatehi, Fatemeh ; Zamanian Najafabadi, Shima ; Afroozan, Fariba ; Yazdan, Hilda ; Bozorgmehr, Bita ; Azarkeivan, Azita ; Sadat Mahdavi, Shokouh ; Nikuei, Pooneh ; Fatehi, Farzad ; Jamali, Payman ; Ashrafi, Mahmoud Reza ; Karimzadeh, Parvaneh ; Habibi, Haleh ; Kahrizi, Kimia ; Nafissi, Shahriar ; Kariminejad, Ariana ; Najmabadi, Hossein
Publisher:London: Nature Publishing Group UK
Journal title:Npj genomic medicine, 2024-02, Vol.9 (1), p.12-12, Article 12
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Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations
Author / Creator:BEHESHTIAN, MARYAM ; IZADI, NASIM ; KRIEGSHAUSER, GERNOT ; KAHRIZI, KIMIA ; MEHR, ELHAM PARSI ; ROSTAMI, MARYAM ; HOSSEINI, MASOUMEH ; AZAD, MARYAM ; MONTAJABINIAT, MONA ; KARIMINEJAD, ARIANA ; NEMETH, STEFAN ; OBERKANINS, CHRISTIAN ; NAJMABADI, HOSSEIN
Publisher:New Delhi: Springer India
Journal title:Journal of genetics, 2016-09, Vol.95 (3), p.667-674
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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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Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period
Author / Creator:BAZAZZADEGAN, Niloofar ; VAZEHAN, Raheleh ; FADAEE, Mahsa ; FATTAHI, Zohreh ; ABOLHASSANI, Ayda ; PARSIMEHR, Elham ; KALHOR, Zahra ; ZONOOZ, Mehrshid FARAJI ; AHANGARI, Fatemeh ; DEHDAHSI, Shima ; SAMIEE, Farshide ; JAMALI, Payman ; HABIBI, Haleh ; NOURIZADEH, Younes ; MAHDAVI, Shokouh ; BEHESHTIAN, Maryam ; KARIMINEJAD, Ariana ; JH SMITH, Richard ; NAJMABADI, Hossein
Publisher:Iran: Tehran University of Medical Sciences
Journal title:Iranian journal of public health, 2019-10, Vol.48 (10), p.1910-1915
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Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis
Author / Creator:Kariminejad, Mohamad Hassan ; Kariminejad, Ariana ; Sadatian, Neda ; Abbassi, Gole Maryam ; Moshtagh, Azadeh ; Hosseini, Kaveh ; Kariminejad, Roxana ; Najafi, Kimia ; Bazrgar, Masood
Publisher:Cairo, Egypt: Hindawi Publishing Corporation
Journal title:Case reports in genetics, 2017-01, Vol.2017 (2017), p.1-4
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Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
Author / Creator:Scott, Eric M ; Halees, Anason ; Itan, Yuval ; Spencer, Emily G ; He, Yupeng ; Azab, Mostafa Abdellateef ; Gabriel, Stacey B ; Belkadi, Aziz ; Boisson, Bertrand ; Abel, Laurent ; Clark, Andrew G ; Alkuraya, Fowzan S ; Casanova, Jean-Laurent ; Gleeson, Joseph G
Publisher:New York: Nature Publishing Group US
Journal title:Nature genetics, 2016-09, Vol.48 (9), p.1071-1076
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Identifying the causes of recurrent pregnancy loss in consanguineous couples using whole exome sequencing on the products of miscarriage with no chromosomal abnormalities

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Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma

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COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum

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The genetic basis of DOORS syndrome: an exome-sequencing study

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Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility

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Alx4 relays sequential FGF signaling to induce lacrimal gland morphogenesis

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Comprehensive copy number analysis of spinal muscular atrophy among the Iranian population

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DOK7 congenital myasthenic syndrome: case series and review of literature

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Mutations in MAB21L2 Result in Ocular Coloboma, Microcornea and Cataracts

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Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails

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Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation

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Mutation profile of BBS genes in Iranian patients with Bardet–Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes

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Core myopathy in two siblings with a biallelic variant in the CACNA1S gene—A case series study

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Bi‐allelic loss of function variant in the NRCAM gene is associated with motor‐predominant axonal polyneuropathy; the second report

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Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population

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Prevalence of common MEFV mutations and carrier frequencies in a large cohort of Iranian populations

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

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Brief Report of Variants Detected in Hereditary Hearing Loss Cases in Iran over a 3-Year Period

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Familial Case of Pelizaeus-Merzbacher Disorder Detected by Oligoarray Comparative Genomic Hybridization: Genotype-to-Phenotype Diagnosis

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Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

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