Bürger J - Search Results

1

Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome.

Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK, Ambrugger P, Reinhold A, Morar B, Baas F, Kwa M, Tournev I, Guerguelcheva V, Kremensky I, Lochmüller H, Müllner-Eidenböck A, Merlini L, Neumann L, Bürger J, Walter M, Swoboda K, Thomas PK, von Moers A, Risch N, Kalaydjieva L. Varon R, et al. Among authors: burger j. Nat Genet. 2003 Oct;35(2):185-9. doi: 10.1038/ng1243. Epub 2003 Sep 21. Nat Genet. 2003. PMID: 14517542

2

Hereditary spastic paraplegia caused by mutations in the SPG4 gene.

Bürger J, Fonknechten N, Hoeltzenbein M, Neumann L, Bratanoff E, Hazan J, Reis A. Bürger J, et al. Eur J Hum Genet. 2000 Oct;8(10):771-6. doi: 10.1038/sj.ejhg.5200528. Eur J Hum Genet. 2000. PMID: 11039577

3

Autosomal dominant spastic paraplegia with anticipation maps to a 4-cM interval on chromosome 2p21-p24 in a large German family.

Bürger J, Metzke H, Paternotte C, Schilling F, Hazan J, Reis A. Bürger J, et al. Hum Genet. 1996 Sep;98(3):371-5. doi: 10.1007/s004390050223. Hum Genet. 1996. PMID: 8707310

4

Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.

Bürger J, Buiting K, Dittrich B, Gross S, Lich C, Sperling K, Horsthemke B, Reis A. Bürger J, et al. Am J Hum Genet. 1997 Jul;61(1):88-93. doi: 10.1086/513900. Am J Hum Genet. 1997. PMID: 9245988 Free PMC article.

5

Phenotypic differences in Angelman syndrome patients: imprinting mutations show less frequently microcephaly and hypopigmentation than deletions.

Bürger J, Kunze J, Sperling K, Reis A. Bürger J, et al. Am J Med Genet. 1996 Dec 11;66(2):221-6. doi: 10.1002/(SICI)1096-8628(19961211)66:2<221::AID-AJMG19>3.0.CO;2-V. Am J Med Genet. 1996. PMID: 8958335

6

Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome.

Bürger J, Horn D, Tönnies H, Neitzel H, Reis A. Bürger J, et al. Am J Med Genet. 2002 Aug 15;111(3):233-7. doi: 10.1002/ajmg.10498. Am J Med Genet. 2002. PMID: 12210318

7

Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg).

Fukai K, Oh J, Karim MA, Moore KJ, Kandil HH, Ito H, Bürger J, Spritz RA. Fukai K, et al. Among authors: burger j. Am J Hum Genet. 1996 Sep;59(3):620-4. Am J Hum Genet. 1996. PMID: 8751863 Free PMC article.

8

Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment.

Beygo J, Bürger J, Strom TM, Kaya S, Buiting K. Beygo J, et al. Among authors: burger j. Eur J Hum Genet. 2019 Jun;27(6):903-908. doi: 10.1038/s41431-019-0365-x. Epub 2019 Feb 18. Eur J Hum Genet. 2019. PMID: 30778172 Free PMC article. Clinical Trial.

9

Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein.

Karim MA, Nagle DL, Kandil HH, Bürger J, Moore KJ, Spritz RA. Karim MA, et al. Among authors: burger j. Hum Mol Genet. 1997 Jul;6(7):1087-9. doi: 10.1093/hmg/6.7.1087. Hum Mol Genet. 1997. PMID: 9215679

10

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis.

Buiting K, Dittrich B, Gross S, Lich C, Färber C, Buchholz T, Smith E, Reis A, Bürger J, Nöthen MM, Barth-Witte U, Janssen B, Abeliovich D, Lerer I, van den Ouweland AM, Halley DJ, Schrander-Stumpel C, Smeets H, Meinecke P, Malcolm S, Gardner A, Lalande M, Nicholls RD, Friend K, Schulze A, Matthijs G, Kokkonen H, Hilbert P, Van Maldergem L, Glover G, Carbonell P, Willems P, Gillessen-Kaesbach G, Horsthemke B. Buiting K, et al. Among authors: burger j. Am J Hum Genet. 1998 Jul;63(1):170-80. doi: 10.1086/301935. Am J Hum Genet. 1998. PMID: 9634532 Free PMC article.

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