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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents


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Entries: 1-10  
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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
 
Full text / Content available
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
 
Full text / Content available
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
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
 
Full text / Content available
Cohort of Balanced Reciprocal Translocations Associated with Dyslexia: Identification of Two Putative Candidate Genes at DYX1.
Authors: Buonincontri, Roberta; Bache, Iben; Silahtaroglu, Asli; Elbro, Carsten; Veber Nielsen, Anne-Mette; Ullmann, Reinhard; Arkesteijn, Ger; Tommerup, Niels
Date of Publication (YYYY-MM-DD): 2010-08-27
Title of Journal: Behavior Genetics: an International Journal Devoted to Research in the Inheritance of Behavior in Animals and man
Volume: 41
Issue / Number: 1
Start Page: 125
End Page: 133
Document Type: Article
ID: 532540.0
 
Full text / Content available
11q14.1-11q22.1 deletion in a 1-year-old male with minor dysmorphic features.
Authors: Kariminejad, Ariana; Kariminejad, Roxana; Tzschach, Andreas; Najafi, Hamid; Ahmed, Alischo; Ullmann, Reinhard; Ropers, Hans-Hilger; Kariminejad, Mohamad Hasan
Date of Publication (YYYY-MM-DD): 2010-08-26
Title of Journal: American Journal of Medical Genetics. Part A.
Volume: 152A
Issue / Number: 10
Start Page: 2651
End Page: 2655
Document Type: Article
ID: 533107.0
 
Full text / Content available
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
 
Full text / Content available
Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.
Authors: Shafeghati, Yousef; Kahrizi, Kimia; Najmabadi, Hossein; Kuss, Andreas Walter; Ropers, Hans-Hilger; Tzschach, Andreas
Date of Publication (YYYY-MM-DD): 2010-07-26
Title of Journal: European Journal of Pediatrics
Volume: 169
Issue / Number: 12
Start Page: 1535
End Page: 1539
Document Type: Article
ID: 534123.0
 
Full text / Content available
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
Entries: 1-10  
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