Kalscheuer VM - Search Results

1

Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems.

Kumar R, Corbett MA, Van Bon BW, Gardner A, Woenig JA, Jolly LA, Douglas E, Friend K, Tan C, Van Esch H, Holvoet M, Raynaud M, Field M, Leffler M, Budny B, Wisniewska M, Badura-Stronka M, Latos-Bieleńska A, Batanian J, Rosenfeld JA, Basel-Vanagaite L, Jensen C, Bienek M, Froyen G, Ullmann R, Hu H, Love MI, Haas SA, Stankiewicz P, Cheung SW, Baxendale A, Nicholl J, Thompson EM, Haan E, Kalscheuer VM, Gecz J. Kumar R, et al. Among authors: kalscheuer vm. Hum Mol Genet. 2015 Dec 20;24(25):7171-81. doi: 10.1093/hmg/ddv414. Epub 2015 Oct 6. Hum Mol Genet. 2015. PMID: 26443594

2

No imprinting involved in the expression of DM-kinase mRNAs in mouse and human tissues.

Jansen G, Bartolomei M, Kalscheuer V, Merkx G, Wormskamp N, Mariman E, Smeets D, Ropers HH, Wieringa B. Jansen G, et al. Hum Mol Genet. 1993 Aug;2(8):1221-7. doi: 10.1093/hmg/2.8.1221. Hum Mol Genet. 1993. PMID: 8401505

3

gamma2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome.

Blagitko N, Schulz U, Schinzel AA, Ropers HH, Kalscheuer VM. Blagitko N, et al. Among authors: kalscheuer vm. Hum Mol Genet. 1999 Dec;8(13):2387-96. doi: 10.1093/hmg/8.13.2387. Hum Mol Genet. 1999. PMID: 10556286

4

Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion.

Blagitko N, Mergenthaler S, Schulz U, Wollmann HA, Craigen W, Eggermann T, Ropers HH, Kalscheuer VM. Blagitko N, et al. Among authors: kalscheuer vm. Hum Mol Genet. 2000 Jul 1;9(11):1587-95. doi: 10.1093/hmg/9.11.1587. Hum Mol Genet. 2000. PMID: 10861285

5

X chromosome-specific cDNA arrays: identification of genes that escape from X-inactivation and other applications.

Sudbrak R, Wieczorek G, Nuber UA, Mann W, Kirchner R, Erdogan F, Brown CJ, Wöhrle D, Sterk P, Kalscheuer VM, Berger W, Lehrach H, Ropers HH. Sudbrak R, et al. Among authors: kalscheuer vm. Hum Mol Genet. 2001 Jan 1;10(1):77-83. doi: 10.1093/hmg/10.1.77. Hum Mol Genet. 2001. PMID: 11136717

6

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency.

Laumonnier F, Ronce N, Hamel BC, Thomas P, Lespinasse J, Raynaud M, Paringaux C, Van Bokhoven H, Kalscheuer V, Fryns JP, Chelly J, Moraine C, Briault S. Laumonnier F, et al. Am J Hum Genet. 2002 Dec;71(6):1450-5. doi: 10.1086/344661. Epub 2002 Nov 8. Am J Hum Genet. 2002. PMID: 12428212 Free PMC article.

7

Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome.

Winter J, Lehmann T, Suckow V, Kijas Z, Kulozik A, Kalscheuer V, Hamel B, Devriendt K, Opitz J, Lenzner S, Ropers HH, Schweiger S. Winter J, et al. Hum Genet. 2003 Mar;112(3):249-54. doi: 10.1007/s00439-002-0901-5. Epub 2003 Jan 24. Hum Genet. 2003. PMID: 12545276

8

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation.

Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kübart S, Menzel C, Hoeltzenbein M, Tommerup N, Eyre H, Harbord M, Haan E, Sutherland GR, Ropers HH, Gécz J. Kalscheuer VM, et al. Am J Hum Genet. 2003 Jun;72(6):1401-11. doi: 10.1086/375538. Epub 2003 May 7. Am J Hum Genet. 2003. PMID: 12736870 Free PMC article.

9

Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene.

Frints SG, Jun L, Fryns JP, Devriendt K, Teulingkx R, Van den Berghe L, De Vos B, Borghgraef M, Chelly J, Des Portes V, Van Bokhoven H, Hamel B, Ropers HH, Kalscheuer V, Raynaud M, Moraine C, Marynen P, Froyen G. Frints SG, et al. Am J Med Genet A. 2003 Jun 15;119A(3):367-74. doi: 10.1002/ajmg.a.20195. Am J Med Genet A. 2003. PMID: 12784308

10

Nonsyndromic X-linked mental retardation: where are the missing mutations?

Ropers HH, Hoeltzenbein M, Kalscheuer V, Yntema H, Hamel B, Fryns JP, Chelly J, Partington M, Gecz J, Moraine C. Ropers HH, et al. Trends Genet. 2003 Jun;19(6):316-20. doi: 10.1016/S0168-9525(03)00113-6. Trends Genet. 2003. PMID: 12801724

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

205 results

Search Page

Filters