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Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci.
Authors: Najmabadi, Hossein; Motazacker, Mohammad Mahdi; Garshasbi, Masoud; Kahrizi, Kimia; Tzschach, Andreas; Chen, Wei; Behjati, Farkhondeh; Hadavi, Valeh; Nieh, Sahar Esmaeeli; Abedini, Seyedeh Sedigheh; Vazifehmand, Reza; Firouzabadi, Saghar Ghasemi; Jamali, Payman; Falah, Masoumeh; Seifati, Seyed Morteza; Grüters, Annette; Lenzner, Steffen; Jensen, Lars R.; Rüschendorf, Franz; Kuss, Andreas W.; Ropers, Hans-Hilger
Date of Publication (YYYY-MM-DD): 2007-03-01
Title of Journal: Human Genetics
Volume: 121
Issue / Number: 1
Start Page: 43
End Page: 48
Document Type: Article
ID: 334609.0


Variants in a novel epidermal collagen gene (COL29A1) are associated with atopic dermatitis
Authors: Söderhäll, Cilla; Marenholz, Ingo; Kerscher, Tamara; Rüschendorf, Franz; Esparza-Gordillo, Jorge; Worm, Margitta; Gruber, Christoph; Mayr, Gabriele; Albrecht, Mario; Rohde, Klaus; Schulz, Herbert; Wahn, Ulrich; Hubner, Norbert; Lee, Young-Ae
Date of Publication (YYYY-MM-DD): 2007
Title of Journal: PLoS Biology
Volume: 5
Issue / Number: 9
Start Page: e242.1952
End Page: 1961
Document Type: Article
ID: 356580.0


SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly
Authors: Garshasbi, Masoud; Motazacker, Mohammad Mahdi; Kahrizi, Kimia; Behjati, Farkhondeh; Abedini, Seyedeh Sedigheh; Nieh, Sahar Esmaeeli; Firouzabadi, Saghar Ghasemi; Becker, Christian; Rüschendorf, Franz; Nürnberg, Peter; Tzschach, Andreas; Vazifehmand, Reza; Erdogan, Fikret; Ullmann, Reinhard; Lenzner, Steffen; Kuss, Andreas W.; Ropers, Hans-Hilger; Najmabadi, Hossein
Date of Publication (YYYY-MM-DD): 2006-02-01
Title of Journal: Human Genetics
Volume: 118
Issue / Number: 6
Start Page: 708
End Page: 715
Document Type: Article
ID: 307622.0


Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy
Authors: Sander, Thomas; Toliat, Mohammad Reza; Heils, Armin; Leschik, Gundula; Becker, Christian; Rüschendorf, Franz; Rohde, Klaus; Mundlos, Stefan; Nürnberg, Peter
Date of Publication (YYYY-MM-DD): 2002-10-01
Title of Journal: Epilepsy Research
Volume: 51
Issue / Number: 3
Start Page: 249
End Page: 255
Document Type: Article
ID: 25766.0


Mapping of Gene Loci for Nephronophthisis Type 4 and Senior-Løken Syndrome, to Chromosome 1p36
Authors: Schuermann, Maria J.; Otto, Edgar; Becker, Achim; Saar, Katrin; Rüschendorf, Franz; Polak, Bettine C.; Ala-Mello, Sirpa; Hoefele, Julia; Wiedensohler, Alexander; Haller, Maria; Omran, Heymut; Nürnberg, Peter; Hildebrandt, Friedhelm
Date of Publication (YYYY-MM-DD): 2002-03-27
Title of Journal: American Journal of Human Genetics
Volume: 70
Issue / Number: 5
Start Page: 1240
End Page: 1246
Document Type: Article
ID: 26832.0