Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability
Abbasi-Moheb, Lia, Mertel, Sara, Gonsior, Melanie, Nouri-Vahid, Leyla, Kahrizi, Kimia, Cirak, Sebahattin, Wieczorek, Dagmar, Motazacker, M. Mahdi, Esmaeeli-Nieh, Sahar, Cremer, Kirsten, Weißmann, Robert, Tzschach, Andreas, Garshasbi, Masoud, Abedini, Seyedeh S., Najmabadi, Hossein, Ropers, H. Hilger, Sigrist, Stephan J., Kuss, Andreas W.
Published in American journal of human genetics (04.05.2012)
Published in American journal of human genetics (04.05.2012)
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Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy
Mefford, Heather C., Clauin, Séverine, Sharp, Andrew J., Moller, Rikke S., Ullmann, Reinhard, Kapur, Raj, Pinkel, Dan, Cooper, Gregory M., Ventura, Mario, Ropers, H. Hilger, Tommerup, Niels, Eichler, Evan E., Bellanne-Chantelot, Christine
Published in American journal of human genetics (01.11.2007)
Published in American journal of human genetics (01.11.2007)
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The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families
Davarniya, Behzad, Hu, Hao, Kahrizi, Kimia, Musante, Luciana, Fattahi, Zohreh, Hosseini, Masoumeh, Maqsoud, Fariba, Farajollahi, Reza, Wienker, Thomas F, Ropers, H Hilger, Najmabadi, Hossein
Published in PloS one (26.08.2015)
Published in PloS one (26.08.2015)
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Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate
Laumonnier, F, Holbert, S, Ronce, N, Faravelli, F, Lenzner, S, Schwartz, C E, Lespinasse, J, Van Esch, H, Lacombe, D, Goizet, C, Phan-Dinh Tuy, F, van Bokhoven, H, Fryns, J-P, Chelly, J, Ropers, H-H, Moraine, C, Hamel, B C J, Briault, S
Published in Journal of medical genetics (01.10.2005)
Published in Journal of medical genetics (01.10.2005)
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Surface reactivity of anatase particles towards phosphated species
Guiot, F., Praud, C., Quillard, S., Humbert, B., Ropers, M.-H., Paris, M., Terrisse, H.
Published in Colloids and surfaces. A, Physicochemical and engineering aspects (20.12.2022)
Published in Colloids and surfaces. A, Physicochemical and engineering aspects (20.12.2022)
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Deep sequencing reveals 50 novel genes for recessive cognitive disorders
NAJMABADI, Hossein, HAO HU, ZECHA, Agnes, MOHSENI, Marzieh, PUTTMANN, Lucia, LEYLA NOURI VAHID, JENSEN, Corinna, LIA ABBASI MOHEB, BIENEK, Melanie, LARTI, Farzaneh, MUELLER, Ines, WEISSMANN, Robert, GARSHASBI, Masoud, DARVISH, Hossein, WROGEMANN, Klaus, HADAVI, Valeh, LIPKOWITZ, Bettina, ESMAEELI-NIEH, Sahar, WIECZOREK, Dagmar, KARIMINEJAD, Roxana, SAGHAR GHASEMI FIROUZABADI, COHEN, Monika, FATTAHI, Zohreh, ZEMOJTEL, Tomasz, ROST, Imma, MOJAHEDI, Faezeh, HERTZBERG, Christoph, DEHGHAN, Atefeh, RAJAB, Anna, MOHAMMAD JAVAD SOLTANI BANAVANDI, HOFFER, Julia, FALAH, Masoumeh, MUSANTE, Luciana, KALSCHEUER, Vera, SEYEDEH SEDIGHEH ABEDINI, ULLMANN, Reinhard, WALTER KUSS, Andreas, TZSCHACH, Andreas, KAHRIZI, Kimia, ROPERS, H. Hilger, WEI CHEN, HOSSEINI, Masoumeh, BEHJATI, Farkhondeh, HAAS, Stefan, JAMALI, Payman
Published in Nature (London) (06.10.2011)
Published in Nature (London) (06.10.2011)
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ST3GAL3 Mutations Impair the Development of Higher Cognitive Functions
Hu, Hao, Eggers, Katinka, Chen, Wei, Garshasbi, Masoud, Motazacker, M. Mahdi, Wrogemann, Klaus, Kahrizi, Kimia, Tzschach, Andreas, Hosseini, Masoumeh, Bahman, Ideh, Hucho, Tim, Mühlenhoff, Martina, Gerardy-Schahn, Rita, Najmabadi, Hossein, Ropers, H. Hilger, Kuss, Andreas W.
Published in American journal of human genetics (09.09.2011)
Published in American journal of human genetics (09.09.2011)
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Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia
Kirov, George, Gumus, Dilihan, Chen, Wei, Norton, Nadine, Georgieva, Lyudmila, Sari, Murat, O’Donovan, Michael C, Erdogan, Fikret, Owen, Michael J, Ropers, Hans-Hilger, Ullmann, Reinhard
Published in Human molecular genetics (01.02.2008)
Published in Human molecular genetics (01.02.2008)
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GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability
Hosseini, Masoumeh, Fattahi, Zohreh, Abedini, Seyedeh Sedigheh, Hu, Hao, Ropers, Hans‐H., Kalscheuer, Vera M., Najmabadi, Hossein, Kahrizi, Kimia
Published in American journal of medical genetics. Part A (01.01.2019)
Published in American journal of medical genetics. Part A (01.01.2019)
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Identification of Mutations in TRAPPC9, which Encodes the NIK- and IKK-β-Binding Protein, in Nonsyndromic Autosomal-Recessive Mental Retardation
Mir, Asif, Kaufman, Liana, Noor, Abdul, Motazacker, Mahdi M., Jamil, Talal, Azam, Matloob, Kahrizi, Kimia, Rafiq, Muhammad Arshad, Weksberg, Rosanna, Nasr, Tanveer, Naeem, Farooq, Tzschach, Andreas, Kuss, Andreas W., Ishak, Gisele E., Doherty, Dan, Ropers, H. Hilger, Barkovich, A. James, Najmabadi, Hossein, Ayub, Muhammad, Vincent, John B.
Published in American journal of human genetics (11.12.2009)
Published in American journal of human genetics (11.12.2009)
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Genome-wide copy number variation analysis in attention-deficit hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree
LESCH, K.-P, SELCH, S, HEINE, M, BOREATTI-HÜMMER, A, ROMANOS, J, GROSS-LESCH, S, ZERLAUT, H, WULTSCH, T, HEINZEL, S, FASSNACHT, M, FALLGATTER, A, ALLOLIO, B, RENNER, T. J, SCHÄFER, H, WARNKE, A, REIF, A, ROPERS, H.-H, ULLMANN, R, JACOB, C, NGUYEN, T. T, HAHN, T, ROMANOS, M, WALITZA, S, SHOICHET, S, DEMPFLE, A
Published in Molecular psychiatry (01.05.2011)
Published in Molecular psychiatry (01.05.2011)
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BOD1 Is Required for Cognitive Function in Humans and Drosophila
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
Published in PLoS genetics (11.05.2016)
Published in PLoS genetics (11.05.2016)
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Novel missense mutations in the ubiquitination-related gene UBE2A cause a recognizable X-linked mental retardation syndrome
Budny, B, Badura-Stronka, M, Materna-Kiryluk, A, Tzschach, A, Raynaud, M, Latos-Bielenska, A, Ropers, HH
Published in Clinical genetics (01.06.2010)
Published in Clinical genetics (01.06.2010)
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Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism
Laumonnier, F, Shoubridge, C, Antar, C, Nguyen, L S, Van Esch, H, Kleefstra, T, Briault, S, Fryns, J P, Hamel, B, Chelly, J, Ropers, H H, Ronce, N, Blesson, S, Moraine, C, Gécz, J, Raynaud, M
Published in Molecular psychiatry (01.07.2010)
Published in Molecular psychiatry (01.07.2010)
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Evaluating information content of SNPs for sample-tagging in re-sequencing projects
Hu, Hao, Liu, Xiang, Jin, Wenfei, Hilger Ropers, H, Wienker, Thomas F
Published in Scientific reports (15.05.2015)
Published in Scientific reports (15.05.2015)
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