Hansmann I - Search Results

1

High frequency of mosaicism among patients with neurofibromatosis type 1 (NF1) with microdeletions caused by somatic recombination of the JJAZ1 gene.

Kehrer-Sawatzki H, Kluwe L, Sandig C, Kohn M, Wimmer K, Krammer U, Peyrl A, Jenne DE, Hansmann I, Mautner VF. Kehrer-Sawatzki H, et al. Among authors: hansmann i. Am J Hum Genet. 2004 Sep;75(3):410-23. doi: 10.1086/423624. Epub 2004 Jul 15. Am J Hum Genet. 2004. PMID: 15257518 Free PMC article.

2

Familial mosaicism of del(Y) and inv del(Y).

Röttger S, Pasantes J, Baldermann C, Reichl E, Yen P, Hansmann I, Schempp W. Röttger S, et al. Among authors: hansmann i. Cytogenet Cell Genet. 2000;91(1-4):208-11. doi: 10.1159/000056846. Cytogenet Cell Genet. 2000. PMID: 11173858

3

Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family.

Hol FA, Hamel BC, Geurds MP, Hansmann I, Nabben FA, Daniëls O, Mariman EC. Hol FA, et al. Among authors: hansmann i. Hum Genet. 1995 Jun;95(6):687-90. doi: 10.1007/BF00209488. Hum Genet. 1995. PMID: 7789956 Free article.

4

Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangements.

Starke H, Seidel J, Henn W, Reichardt S, Volleth M, Stumm M, Behrend C, Sandig KR, Kelbova C, Senger G, Albrecht B, Hansmann I, Heller A, Claussen U, Liehr T. Starke H, et al. Among authors: hansmann i. Eur J Hum Genet. 2002 Dec;10(12):790-800. doi: 10.1038/sj.ejhg.5200889. Eur J Hum Genet. 2002. PMID: 12461685

5

Gene symbol: JAG1. Disease: tetralogy of Fallot.

Glaeser C, Kotzot D, Caliebe A, Kottke R, Schulz S, Schweigmann U, Hansmann I. Glaeser C, et al. Among authors: hansmann i. Hum Genet. 2006 Jul;119(6):674. Hum Genet. 2006. PMID: 17128462 No abstract available.

6

Parental mosaicism of JAG1 mutations in families with Alagille syndrome.

Giannakudis J, Röpke A, Kujat A, Krajewska-Walasek M, Hughes H, Fryns JP, Bankier A, Amor D, Schlicker M, Hansmann I. Giannakudis J, et al. Among authors: hansmann i. Eur J Hum Genet. 2001 Mar;9(3):209-16. doi: 10.1038/sj.ejhg.5200613. Eur J Hum Genet. 2001. PMID: 11313761

7

Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression.

Stankiewicz P, Thiele H, Giannakudis I, Schlicker M, Baldermann C, Krüger A, Dörr S, Starke H, Hansmann I. Stankiewicz P, et al. Among authors: hansmann i. Am J Med Genet. 2001 Aug 15;102(3):286-92. doi: 10.1002/ajmg.1462. Am J Med Genet. 2001. PMID: 11484209

8

High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype.

Callen DF, Eyre H, Lane S, Shen Y, Hansmann I, Spinner N, Zackai E, McDonald-McGinn D, Schuffenhauer S, Wauters J, et al. Callen DF, et al. Among authors: hansmann i. J Med Genet. 1993 Oct;30(10):828-32. doi: 10.1136/jmg.30.10.828. J Med Genet. 1993. PMID: 8230159 Free PMC article.

9

Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation.

Stankiewicz P, Kuechler A, Eller CD, Sahoo T, Baldermann C, Lieser U, Hesse M, Gläser C, Hagemann M, Yatsenko SA, Liehr T, Horsthemke B, Claussen U, Marahrens Y, Lupski JR, Hansmann I. Stankiewicz P, et al. Among authors: hansmann i. Am J Med Genet A. 2006 Mar 1;140(5):442-52. doi: 10.1002/ajmg.a.31096. Am J Med Genet A. 2006. PMID: 16470732

10

Maternal UPD 20 in a hyperactive child with severe growth retardation.

Chudoba I, Franke Y, Senger G, Sauerbrei G, Demuth S, Beensen V, Neumann A, Hansmann I, Claussen U. Chudoba I, et al. Among authors: hansmann i. Eur J Hum Genet. 1999 Jul;7(5):533-40. doi: 10.1038/sj.ejhg.5200287. Eur J Hum Genet. 1999. PMID: 10439958

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