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Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis.
Authors: Klopocki, E.; Lohan, S.; Brancati, F.; Koll, R.; Brehm, A.; Seemann, P.; Dathe, K.; Stricker, S.; Hecht, J.; Bosse, K.; Betz, R. C.; Garaci, F. G.; Dallapiccola, B.; Jain, M.; Muenke, M.; Ng, V. C.; Chan, W.; Chan, D.; Mundlos, S.
Date of Publication (YYYY-MM-DD): 2011-01-07
Title of Journal: American Journal of Human Genetics
Volume: 88
Issue / Number: 1
Start Page: 70
End Page: 75
Document Type: Article
ID: 538366.0


Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits
Authors: Horn, D.; Kapeller, J.; Rivera-Brugues, N.; Moog, U.; Lorenz-Depiereux, B.; Eck, S.; Hempel, M.; Wagenstaller, J.; Gawthrope, A.; Monaco, A. P.; Bonin, M.; Riess, O.; Wohlleber, E.; Illig, T.; Bezzina, C. R.; Franke, A.; Spranger, S.; Villavicencio-Lorini, P.; Seifert, W.; Rosenfeld, J.; Klopocki, E.; Rappold, G. A.; Strom, T. M.
Date of Publication (YYYY-MM-DD): 2010-11-01
Title of Journal: Human Mutation
Volume: 31
Issue / Number: 11
Start Page: E1851
End Page: E1860
Document Type: Article
ID: 539476.0


Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q.
Authors: Kantaputra, P. N.; Klopocki, E.; Hennig, B. P.; Praphanphoj, V.; Le Caignec, C.; Isidor, B.; Kwee, M. L.; Shears, D. J.; Mundlos, S.
Date of Publication (YYYY-MM-DD): 2010-07-21
Title of Journal: European Journal of Human Genetics
Volume: 18
Issue / Number: 12
Start Page: 1310
End Page: 1314
Document Type: Article
ID: 538393.0


Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia
Authors: Ott, C. E.; Leschik, G.; Trotier, F.; Brueton, L.; Brunner, H. G.; Brussel, W.; Guillen-Navarro, E.; Haase, C.; Kohlhase, J.; Kotzot, D.; Lane, A.; Lee-Kirsch, M. A.; Morlot, S.; Simon, M. E.; Steichen-Gersdorf, E.; Tegay, D. H.; Peters, H.; Mundlos, S.; Klopocki, E.
Date of Publication (YYYY-MM-DD): 2010-06-03
Title of Journal: Human Mutation
Volume: 31
Issue / Number: 8
Start Page: E1587
End Page: 93
Document Type: Article
ID: 539733.0


Analysis of relative gene dosage and expression differences of the paralogs RABL2A and RABL2B by Pyrosequencing.
Authors: Kramer, M.; Backhaus, O.; Rosenstiel, P.; Horn, D.; Klopocki, E.; Birkenmeier, G.; Schreiber, S.; Platzer, M.; Hampe, J.; Huse, K.
Date of Publication (YYYY-MM-DD): 2010-05-01
Title of Journal: Gene
Volume: 455
Issue / Number: 1-2
Start Page: 1
End Page: 7
Document Type: Article
ID: 541483.0


Deletion and point mutations of PTHLH cause brachydactyly type E.
Authors: Klopocki, E.; Hennig, B. P.; Dathe, K.; Koll, R.; de Ravel, T.; Baten, E.; Blom, E.; Gillerot, Y.; Weigel, J. F.; Krüger, G.; Hiort, O.; Seemann, P.; Mundlos, S.
Date of Publication (YYYY-MM-DD): 2010-03-12
Title of Journal: The American Journal of Human Genetics
Volume: 86
Issue / Number: 3
Start Page: 434
End Page: 439
Document Type: Article
ID: 541871.0


A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome
Authors: Klopocki, E.; Ott, C-E; Benatar, N; Ullmann, Reinhardt; Mundlos, Stefan; Lehmann, Katarina
Date of Publication (YYYY-MM-DD): 2008-01-04
Title of Journal: Journal of Medical Gentics
Volume: 45
Issue / Number: 6
Start Page: 370
End Page: 375
Document Type: Article
ID: 410648.0


A complex phenotype with cystic renal disease
Authors: Müller, D.; Klopocki, E.; Neumann, L. E.; Mundlos, Stefan; Taupitz, M.; Schulze, I.; Ropers, Hans-Hilger; Querfeld, U.; Ullmann, Reinhard
Date of Publication (YYYY-MM-DD): 2006-11-01
Title of Journal: Kidney International : Official Journal of the International Society of Nephrology
Volume: 70
Issue / Number: 9
Start Page: 1656
End Page: 1660
Document Type: Article
ID: 307737.0


A complex phenotype with cystic renal disease
Authors: Müller, D.; Klopocki, E.; Neumann, L. E.; Mundlos, Stefan; Taupitz, M.; Schulze, I.; Ropers, Hans-Hilger; Querfeld, U.; Ullmann, Reinhard
Date of Publication (YYYY-MM-DD): 2006-11-01
Title of Journal: Kidney International : Official Journal of the International Society of Nephrology
Volume: 70
Issue / Number: 9
Start Page: 1656
End Page: 1660
Document Type: Article
ID: 307740.0