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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
 
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
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
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
Screening chromosomal aberrations by array comparative genomic hybridization in 80 patients with congenital hypothyroidism and thyroid dysgenesis.
Authors: Thorwarth, A.; Mueller, I.; Biebermann, H.; Ropers, Hans-Hilger; Grueters, A.; Krude, H.; Ullmann, Reinhard
Date of Publication (YYYY-MM-DD): 2010-07-01
Title of Journal: The Journal of Clinical Endocrinology & Metabolism
Volume: 95
Issue / Number: 7
Start Page: 3446
End Page: 3452
Document Type: Article
ID: 535979.0
Subtelomeric 6p monosomy and 12q trisomy in a patient with a 46,XX,der(6)t(6;12)(p25.3;q24.31) karyotype: Phenotypic overlap with Mutchinick syndrome.
Authors: Semerci, C. Nur; Cinbis, Mine; Ullmann, Reinhard; Steininger, Anne; Bahce, Muhterem; Yagci, Baki; Ozden, Serap; Sabir, Nuran; Gumus, Dilihan; Tepeli, Emre; Arteaga, Jazmín; Mutchinick, Osvaldo M.
Date of Publication (YYYY-MM-DD): 2010-05-27
Title of Journal: American Journal of Medical Genetics Part A
Volume: 152A
Issue / Number: 7
Start Page: 1724
End Page: 1729
Document Type: Article
ID: 534116.0
 
Full text / Content available
Translocation and Deletion around SOX9 in a Patient with Acampomelic Campomelic Dysplasia and Sex Reversal.
Authors: Jakubiczka, S.; Schröder, C.; Ullmann, Reinhard; Volleth, M.; Ledig, S.; Gilberg, E.; Kroisel, P.; P. Wieacker, P.
Date of Publication (YYYY-MM-DD): 2010-05-04
Title of Journal: Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
Volume: 4
Issue / Number: 3
Start Page: 143
End Page: 149
Document Type: Article
ID: 533091.0
 
Full text / Content available
Characterization of an interstitial 4q32 deletion in a patient with mental retardation and a complex chromosome rearrangement.
Authors: Tzschach, Andreas; Menzel, Corinna; Erdogan, Fikret; Istifli, Erman Salih; Rieger, Martin; Ovens-Raeder, Angela; Macke, Alfons; Ropers, Hans-Hilger; Ullmann, Reinhard; Kalscheuer, Vera M.
Date of Publication (YYYY-MM-DD): 2010-03-26
Title of Journal: American Journal of Medical Genetics. Part A.
Volume: 152A
Issue / Number: 4
Start Page: 1008
End Page: 1012
Document Type: Article
ID: 536095.0
Entries: 1-10  
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