Gillessen-Kaesbach G - Search Results

1

Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome.

Schwartz CE, Gillessen-Kaesbach G, May M, Cappa M, Gorski J, Steindl K, Neri G. Schwartz CE, et al. Eur J Hum Genet. 2000 Nov;8(11):869-74. doi: 10.1038/sj.ejhg.5200553. Eur J Hum Genet. 2000. PMID: 11093277

2

Exclusion of linkage between autosomal dominant split hand/split foot and markers from chromosome 7q: further evidence for genetic heterogeneity.

Gurrieri F, Genuardi M, Chiurazzi P, Gillessen-Kaesbach G, Neri G. Gurrieri F, et al. Am J Hum Genet. 1994 Oct;55(4):853-5. Am J Hum Genet. 1994. PMID: 7942863 Free PMC article. No abstract available.

3

Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

Kleefstra T, Wortmann SB, Rodenburg RJ, Bongers EM, Hadzsiev K, Noordam C, van den Heuvel LP, Nillesen WM, Hollody K, Gillessen-Kaesbach G, Lammens M, Smeitink JA, van der Burgt I, Morava E. Kleefstra T, et al. Eur J Hum Genet. 2011 Feb;19(2):138-44. doi: 10.1038/ejhg.2010.171. Epub 2010 Nov 10. Eur J Hum Genet. 2011. PMID: 21063443 Free PMC article.

4

Defective protein glycosylation in patients with cutis laxa syndrome.

Morava E, Wopereis S, Coucke P, Gillessen-Kaesbach G, Voit T, Smeitink J, Wevers R, Grünewald S. Morava E, et al. Eur J Hum Genet. 2005 Apr;13(4):414-21. doi: 10.1038/sj.ejhg.5201361. Eur J Hum Genet. 2005. PMID: 15657616

5

Trisomy 13 with bilateral hand oligodactyly.

Kuschel B, Gillessen-Kaesbach G. Kuschel B, et al. Am J Med Genet. 2000 Jan 3;90(1):87-8. Am J Med Genet. 2000. PMID: 10602126 No abstract available.

6

Aplasia cutis congenita--etiological relationship to antiphospholipid syndrome?

Roll C, Hanssler L, Voit T, Gillessen-Kaesbach G. Roll C, et al. Clin Dysmorphol. 1999 Jul;8(3):215-7. Clin Dysmorphol. 1999. PMID: 10457858

7

The face of Noonan syndrome: Does phenotype predict genotype.

Allanson JE, Bohring A, Dörr HG, Dufke A, Gillessen-Kaesbach G, Horn D, König R, Kratz CP, Kutsche K, Pauli S, Raskin S, Rauch A, Turner A, Wieczorek D, Zenker M. Allanson JE, et al. Am J Med Genet A. 2010 Aug;152A(8):1960-6. doi: 10.1002/ajmg.a.33518. Am J Med Genet A. 2010. PMID: 20602484 Free PMC article.

8

Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing.

Baalmann N, Spielmann M, Gillessen-Kaesbach G, Hanker B, Schmidt J, Lill CM, Hellenbroich Y, Greiten B, Lohmann K, Trinh J, Hüning I. Baalmann N, et al. Among authors: gillessen kaesbach g. Eur J Med Genet. 2023 Jul;66(7):104774. doi: 10.1016/j.ejmg.2023.104774. Epub 2023 Apr 28. Eur J Med Genet. 2023. PMID: 37120078

9

Nachruf Prof. Dr. med. Eberhard Schwinger.

Gillessen-Kaesbach G. Gillessen-Kaesbach G. Med Genet. 2023 Apr 5;35(1):61-62. doi: 10.1515/medgen-2023-2002. eCollection 2023 Apr. Med Genet. 2023. PMID: 38835413 Free PMC article. German. No abstract available.

10

Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposis.

Boschann F, Cogulu O, Pehlivan D, Balachandran S, Vallecillo-Garcia P, Grochowski CM, Hansmeier NR, Coban Akdemir ZH, Prada-Medina CA, Aykut A, Fischer-Zirnsak B, Badura S, Durmaz B, Ozkinay F, Hägerling R, Posey JE, Stricker S, Gillessen-Kaesbach G, Spielmann M, Horn D, Brockmann K, Lupski JR, Kornak U, Schmidt J. Boschann F, et al. Among authors: gillessen kaesbach g. Genet Med. 2023 May;25(5):100799. doi: 10.1016/j.gim.2023.100799. Epub 2023 Feb 28. Genet Med. 2023. PMID: 36853234 Free article. No abstract available.

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