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X-linked mental retardation
Author / Creator:Ropers, H.-Hilger ; Hamel, Ben C. J.
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Genetics, 2005-01, Vol.6 (1), p.46-57
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The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families
Author / Creator:Davarniya, Behzad ; Hu, Hao ; Kahrizi, Kimia ; Musante, Luciana ; Fattahi, Zohreh ; Hosseini, Masoumeh ; Maqsoud, Fariba ; Farajollahi, Reza ; Wienker, Thomas F. ; Ropers, H. Hilger ; Najmabadi, Hossein
Publisher:United States: Public Library of Science
Journal title:PloS one, 2015-08, Vol.10 (8), p.e0129631-e0129631
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BOD1 Is Required for Cognitive Function in Humans and Drosophila
Author / Creator:Esmaeeli-Nieh, Sahar ; Fenckova, Michaela ; Porter, Iain M. ; Motazacker, M. Mahdi ; Nijhof, Bonnie ; Castells-Nobau, Anna ; Asztalos, Zoltan ; Weißmann, Robert ; Behjati, Farkhondeh ; Tzschach, Andreas ; Felbor, Ute ; Scherthan, Harry ; Sayfati, Seyed Morteza ; Ropers, H. Hilger ; Kahrizi, Kimia ; Najmabadi, Hossein ; Swedlow, Jason R. ; Schenck, Annette ; Kuss, Andreas W.
Publisher:United States: Public Library of Science
Journal title:PLoS genetics, 2016-05, Vol.12 (5), p.e1006022-e1006022
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Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci
Author / Creator:Najmabadi, Hossein ; Motazacker, Mohammad Mahdi ; Garshasbi, Masoud ; Kahrizi, Kimia ; Tzschach, Andreas ; Chen, Wei ; Behjati, Farkhondeh ; Hadavi, Valeh ; Nieh, Sahar Esmaeeli ; Abedini, Seyedeh Sedigheh ; Vazifehmand, Reza ; Firouzabadi, Saghar Ghasemi ; Jamali, Payman ; Falah, Masoumeh ; Seifati, Seyed Morteza ; Grüters, Annette ; Lenzner, Steffen ; Jensen, Lars R. ; Rüschendorf, Franz ; Kuss, Andreas W. ; Ropers, H. Hilger
Publisher:Heidelberg: Springer
Journal title:Human genetics, 2007-03, Vol.121 (1), p.43-48
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CGHPRO – A comprehensive data analysis tool for array CGH
Author / Creator:Chen, Wei ; Erdogan, Fikret ; Ropers, H-Hilger ; Lenzner, Steffen ; Ullmann, Reinhard
Publisher:England: BioMed Central Ltd
Journal title:BMC bioinformatics, 2005-04, Vol.6 (1), p.85-85, Article 85
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Deep sequencing reveals 50 novel genes for recessive cognitive disorders
Author / Creator:Najmabadi, Hossein ; Hu, Hao ; Garshasbi, Masoud ; Zemojtel, Tomasz ; Abedini, Seyedeh Sedigheh ; Chen, Wei ; Hosseini, Masoumeh ; Behjati, Farkhondeh ; Haas, Stefan ; Jamali, Payman ; Zecha, Agnes ; Mohseni, Marzieh ; Püttmann, Lucia ; Vahid, Leyla Nouri ; Jensen, Corinna ; Moheb, Lia Abbasi ; Bienek, Melanie ; Larti, Farzaneh ; Mueller, Ines ; Weissmann, Robert ; Darvish, Hossein ; Wrogemann, Klaus ; Hadavi, Valeh ; Lipkowitz, Bettina ; Esmaeeli-Nieh, Sahar ; Wieczorek, Dagmar ; Kariminejad, Roxana ; Firouzabadi, Saghar Ghasemi ; Cohen, Monika ; Fattahi, Zohreh ; Rost, Imma ; Mojahedi, Faezeh ; Hertzberg, Christoph ; Dehghan, Atefeh ; Rajab, Anna ; Banavandi, Mohammad Javad Soltani ; Hoffer, Julia ; Falah, Masoumeh ; Musante, Luciana ; Kalscheuer, Vera ; Ullmann, Reinhard ; Kuss, Andreas Walter ; Tzschach, Andreas ; Kahrizi, Kimia ; Ropers, H. Hilger
Publisher:London: Nature Publishing Group UK
Journal title:Nature (London), 2011-10, Vol.478 (7367), p.57-63
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Gene expression profile of mouse bone marrow stromal cells determined by cDNA microarray analysis
Author / Creator:Wieczorek, Georg ; Steinhoff, Christine ; Schulz, Ralph ; Scheller, Marina ; Vingron, Martin ; Ropers, H.-Hilger ; Nuber, Ulrike A.
Publisher:Germany: Springer Nature B.V
Journal title:Cell and tissue research, 2003-02, Vol.311 (2), p.227-237
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Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation
Author / Creator:Chen, Wei ; Jensen, Lars R ; Gecz, Jozef ; Fryns, Jean-Pierre ; Moraine, Claude ; de Brouwer, Arjan ; Chelly, Jamel ; Moser, Bettina ; Ropers, H Hilger ; Kuss, Andreas W
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2007-03, Vol.15 (3), p.375-378
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Evaluating information content of SNPs for sample-tagging in re-sequencing projects
Author / Creator:Hu, Hao ; Liu, Xiang ; Jin, Wenfei ; Hilger Ropers, H ; Wienker, Thomas F
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2015-05, Vol.5 (1), p.10247-10247, Article 10247
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De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome
Author / Creator:Bainbridge, Matthew N ; Hu, Hao ; Muzny, Donna M ; Musante, Luciana ; Lupski, James R ; Graham, Brett H ; Chen, Wei ; Gripp, Karen W ; Jenny, Kim ; Wienker, Thomas F ; Yang, Yaping ; Sutton, V Reid ; Gibbs, Richard A ; Ropers, H Hilger
Publisher:England: BioMed Central Ltd
Journal title:Genome medicine, 2013-02, Vol.5 (2), p.11-11, Article 11
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Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation
Author / Creator:Ullmann, Reinhard ; Turner, Gillian ; Kirchhoff, Maria ; Chen, Wei ; Tonge, Bruce ; Rosenberg, Carla ; Field, Michael ; Vianna‐Morgante, Angela M. ; Christie, Louise ; Krepischi‐Santos, Ana C. ; Banna, Lynn ; Brereton, Avril V. ; Hill, Alyssa ; Bisgaard, Anne‐Marie ; Müller, Ines ; Hultschig, Claus ; Erdogan, Fikret ; Wieczorek, Georg ; Ropers, H. Hilger
Publisher:Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Journal title:Human mutation, 2007-07, Vol.28 (7), p.674-682
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A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability
Author / Creator:Larti, Farzaneh ; Kahrizi, Kimia ; Musante, Luciana ; Hu, Hao ; Papari, Elahe ; Fattahi, Zohreh ; Bazazzadegan, Niloofar ; Liu, Zhe ; Banan, Mehdi ; Garshasbi, Masoud ; Wienker, Thomas F ; Ropers, H Hilger ; Galjart, Niels ; Najmabadi, Hossein
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-03, Vol.23 (3), p.331-336
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Mutations in the MEN I gene in sporadic neuroendocrine tumours of gastroenteropancreatic system
Author / Creator:Wiedenmann, Bertram ; Toliat, Mohammad-Reza ; Berger, Wolfgang ; Ropers, H Hilger ; Neuhaus, Peter
Publisher:London: Elsevier Ltd
Journal title:The Lancet (British edition), 1997-10, Vol.350 (9086), p.1223-1223
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Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3
Author / Creator:Kahrizi, Kimia ; Hu, Cougar Hao ; Garshasbi, Masoud ; Abedini, Seyedeh Sedigheh ; Ghadami, Shirin ; Kariminejad, Roxana ; Ullmann, Reinhard ; Chen, Wei ; Ropers, H-Hilger ; Kuss, Andreas W ; Najmabadi, Hossein ; Tzschach, Andreas
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2011-01, Vol.19 (1), p.115-117
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A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability
Author / Creator:Larti, Farzaneh ; Kahrizi, Kimia ; Musante, Luciana ; Hu, Hao ; Papari, Elahe ; Fattahi, Zohreh ; Bazazzadegan, Niloofar ; Liu, Zhe ; Banan, Mehdi ; Garshasbi, Masoud ; Wienker, Thomas F ; Hilger Ropers, H ; Galjart, Niels ; Najmabadi, Hossein
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-03, Vol.23 (3), p.416-416
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Intelligence: shared genetic basis between Mendelian disorders and a polygenic trait
Author / Creator:Franić, Sanja ; Groen-Blokhuis, Maria M ; Dolan, Conor V ; Kattenberg, Mathijs V ; Pool, René ; Xiao, Xiangjun ; Scheet, Paul A ; Ehli, Erik A ; Davies, Gareth E ; van der Sluis, Sophie ; Abdellaoui, Abdel ; Hansell, Narelle K ; Martin, Nicholas G ; Hudziak, James J ; van Beijsterveldt, Catherina E M ; Swagerman, Suzanne C ; Hulshoff Pol, Hilleke E ; de Geus, Eco J C ; Bartels, Meike ; Ropers, H Hilger ; Hottenga, Jouke-Jan ; Boomsma, Dorret I
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1378-1383
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SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly
Author / Creator:Garshasbi, Masoud ; Motazacker, Mohammad Mahdi ; Kahrizi, Kimia ; Behjati, Farkhondeh ; Abedini, Seyedeh Sedigheh ; Nieh, Sahar Esmaeeli ; Firouzabadi, Saghar Ghasemi ; Becker, Christian ; Rüschendorf, Franz ; Nürnberg, Peter ; Tzschach, Andreas ; Vazifehmand, Reza ; Erdogan, Fikret ; Ullmann, Reinhard ; Lenzner, Steffen ; Kuss, Andreas W. ; Ropers, H. Hilger ; Najmabadi, Hossein
Publisher:Germany: Springer Nature B.V
Journal title:Human genetics, 2006-02, Vol.118 (6), p.708-715
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Erratum: A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability
Author / Creator:Larti, Farzaneh ; Kahrizi, Kimia ; Musante, Luciana ; Hu, Hao ; Papari, Elahe ; Fattahi, Zohreh ; Bazazzadegan, Niloofar ; Liu, Zhe ; Banan, Mehdi ; Garshasbi, Masoud ; Wienker, Thomas F ; Hilger Ropers, H ; Galjart, Niels ; Najmabadi, Hossein
Journal title:European journal of human genetics : EJHG, 2015-02, Vol.23 (3), p.416-416
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The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families: e0129631
Author / Creator:Davarniya, Behzad ; Hu, Hao ; Kahrizi, Kimia ; Musante, Luciana ; Fattahi, Zohreh ; Hosseini, Masoumeh ; Maqsoud, Fariba ; Farajollahi, Reza ; Wienker, Thomas F ; Ropers, H Hilger
Journal title:PloS one, 2015-08, Vol.10 (8)
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Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation
Author / Creator:Chen, Wei ; Jensen, Lars R ; Gecz, Jozef ; Fryns, Jean-Pierre ; Moraine, Claude ; De Brouwer, Arjan ; Chelly, Jamel ; Moser, Bettina ; Ropers, H Hilger ; Kuss, Andreas W
Journal title:European journal of human genetics : EJHG, 2007-03, Vol.15 (3), p.375-378
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Showing 1 to 20 of 23 results

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X-linked mental retardation

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The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

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BOD1 Is Required for Cognitive Function in Humans and Drosophila

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Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci

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CGHPRO – A comprehensive data analysis tool for array CGH

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Deep sequencing reveals 50 novel genes for recessive cognitive disorders

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Gene expression profile of mouse bone marrow stromal cells determined by cDNA microarray analysis

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Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation

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Evaluating information content of SNPs for sample-tagging in re-sequencing projects

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De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome

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Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation

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A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

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Mutations in the MEN I gene in sporadic neuroendocrine tumours of gastroenteropancreatic system

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Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

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A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

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Intelligence: shared genetic basis between Mendelian disorders and a polygenic trait

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SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly

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Erratum: A defect in the CLIP1 gene (CLIP-170) can cause autosomal recessive intellectual disability

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The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families: e0129631

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Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation

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