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Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 nvel loci and several mutation hotspots |
Authors: Kuss, Andreas Walter; Garshasbi, Masoud; Kahrizi, Kimia; Tzschach, Andreas; Behjati, Farkhondeh; Darvish, Hossein; Abbasi-Moheb, Lia; Puettmann, Lucia; Zecha, Agnes; Weißmann, Robert; Hu, Hao; Mohseni, Marzieh; Abedini, Seyedeh Sedigheh; Rajab, Anna; Hertzberg, Christoph; Wieczorek, Dagmar; Ullmann, Reinhard; Saghar Ghasemi-Firouzabadi, Saghar; Banihashemi, Susan; Arzhangi, Sanaz; Hadavi, Valeh; Bahrami-Monajemi, Gholamreza; Kasiri, Mahboubeh; Falah, Masoumeh; Nikuei, Pooneh; Dehghan, Atefeh; Sobhani, Masoumeh; Jamali, Payman; Ropers, Hans-Hilger; Najmabadi, Hossein | Date of Publication (YYYY-MM-DD): 2010-11-09 | Title of Journal: Human Genetics | Volume: 129 | Issue / Number: 2 | Start Page: 141 | End Page: 148 | Document Type: Article | ID: 533429.0 |
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A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. |
Authors: Darvish, H. .; Nieh, Sahar Esmaeeli; Monajemi, G. B.; Mohseni, M.; Ghasemi-Firouzabadi, S.; Abedini, S. S.; Bahman, I.; P Jamali, P.; Azimi, S.; Mojahedi, F.; Dehghan, A.; Shafeghati, Y.; Jankhah, A.; Falah, M.; Soltani Banavandi, M. J.; Ghani-Kakhi, M.; Garshasbi, M.; Rakhshani, F.; Naghavi, A.; Tzschach, Andreas; Neitzel, H.; Ropers, Hans-Hilger; Kuss, Andreas W.; Behjati, F.; Kahrizi, K.; Najmabadi, Hossein | Date of Publication (YYYY-MM-DD): 2010-10-26 | Title of Journal: Journal of Medical Genetics. | Volume: 47 | Issue / Number: 12 | Start Page: 823 | End Page: 828 | Document Type: Article | ID: 532565.0 |
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WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. |
Authors: Kim, Hyung-Goo; Ahn, Jang-Won; Kurth, Ingo; Ullmann, Reinhard; Kim, Hyun-Taek; Kulharya, Anita; Ha, Kyung-Soo; Itokawa, Yasuhide; Meliciani, Irene; Wolfgang Wenzel, Wolfgang Wenzel; Lee, Deresa; Rosenberger, Georg; Ozata, Metin; Bick, David P.; Sherins, Richard J.; Nagase, Takahiro; Tekin, Mustafa; Kim, Soo-Hyun; Kim, Cheol-Hee; Ropers, Hans-Hilger; Gusella, James F.; Kalscheuer, Vera M.; Choi, Cheol Yong; Layman, Lawrence C. | Date of Publication (YYYY-MM-DD): 2010-10-08 | Title of Journal: American Society of Human Genetics | Volume: 87 | Issue / Number: 4 | Start Page: 465 | End Page: 479 | Document Type: Article | ID: 533112.0 |
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Rap1-independent telomere attachment and bouqet formation in mammalian meiosis. |
Authors: Scherthan, Harry; Sfeir, Agnel; Lange, Titia | Date of Publication (YYYY-MM-DD): 2010-10-06 | Title of Journal: Chromosoma | Volume: 119 | Issue / Number: 5 | Start Page: online | End Page: online | Document Type: Article | ID: 536106.0 |
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Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. |
Authors: Endele, Sabine; Rosenberger, Georg; Geider, Kirsten; Popp, Bernt; Tamer, Ceyhun; Stefanova, Irina; Milh, Mathieu; Kortüm, Fanny; Fritsch, Angela; Pientka, Friederike K; Hellenbroich, Yorck; Kalscheuer, Vera M; Kohlhase, Jürgen; Moog, Ute; Rappold, Gudrun; Rauch, Anita; Ropers, Hans-Hilger; von Spiczak, Sarah; Tönnies, Holger; Villeneuve, Nathalie; Villard, Laurent; Zabel, Bernhard; Zenker, Martin; Laube, Bodo; Reis, André; Wieczorek, Dagmar; Van Maldergem, Lionel; Kutsche, Kerstin | Date of Publication (YYYY-MM-DD): 2010-10-03 | Title of Journal: Nature Genetics. | Volume: 42 | Issue / Number: 11 | Start Page: 1021 | End Page: 1026 | Document Type: Article | ID: 532578.0 |
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Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. |
Authors: Kahrizi, Kimia; Hu, Cougar Hao; Garshasbi, Masoud; Abedini, Seyedeh Sedigheh; Ghadami, Shirin; Kariminejad, Roxana; Ullmann, Reinhard; Chen, Wei; Ropers, Hans-Hilger; Kuss, Andreas W.; Najmabadi, Hossein; Tzschach, Andreas | Date of Publication (YYYY-MM-DD): 2010-08-11 | Title of Journal: European Journal of Human Genetics | Volume: 19 | Start Page: 115 | End Page: 117 | Document Type: Article | ID: 533103.0 |
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Gene amplification as double minutes or homogeneously staining regions in solid tumors: Origin and structure |
Authors: Storlazzi, Clelia Tiziana; Lonoce, Angelo; Guastadisegni, Maria C.; Trombetta, Domenico; D'Addabbo, Pietro; Daniele, Giulia; L'Abbate, Alberto; Macchia, Gemma; Surace, Cecilia; Kok, Klaas; Ullmann, Reinhard; Purgato, Stefania; Palumbo, Orazio; Carella, Massimo; Ambros, Peter F.; Rocchi, Mariano | Date of Publication (YYYY-MM-DD): 2010-07-14 | Title of Journal: Genome Research | Volume: 20 | Issue / Number: 9 | Start Page: 1198 | End Page: 1206 | Document Type: Article | ID: 534133.0 |
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