Please note that eDoc will be permanently shut down in the first quarter of 2021!      Home News About Us Contact Contributors Disclaimer Privacy Policy Help FAQ

Home
Search
Quick Search
Advanced
Fulltext
Browse
Collections
Persons
My eDoc
Session History
Login
Name:
Password:
Documentation
Help
Support Wiki
Direct access to
document ID:


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


Institute:
Collection:
Print in Citation style Print version     Display:
Sort by: Display records with Fulltext only
Entries: 1-10  
 Basket 
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
 
Full text / Content available
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  
The scope and number of records on eDoc is subject to the collection policies defined by each institute - see "info" button in the collection browse view.