Schinzel A - Search Results

1

Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.

Putoux A, Nampoothiri S, Laurent N, Cormier-Daire V, Beales PL, Schinzel A, Bartholdi D, Alby C, Thomas S, Elkhartoufi N, Ichkou A, Litzler J, Munnich A, Encha-Razavi F, Kannan R, Faivre L, Boddaert N, Rauch A, Vekemans M, Attié-Bitach T. Putoux A, et al. Among authors: schinzel a. J Med Genet. 2012 Nov;49(11):713-20. doi: 10.1136/jmedgenet-2012-101016. J Med Genet. 2012. PMID: 23125460

2

Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.

Bartholdi D, Roelfsema JH, Papadia F, Breuning MH, Niedrist D, Hennekam RC, Schinzel A, Peters DJ. Bartholdi D, et al. Among authors: schinzel a. J Med Genet. 2007 May;44(5):327-33. doi: 10.1136/jmg.2006.046698. Epub 2007 Jan 12. J Med Genet. 2007. PMID: 17220215 Free PMC article.

3

Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature.

Bartholdi D, Toelle SP, Steiner B, Boltshauser E, Schinzel A, Riegel M. Bartholdi D, et al. Among authors: schinzel a. Eur J Med Genet. 2008 Mar-Apr;51(2):113-23. doi: 10.1016/j.ejmg.2007.12.005. Epub 2008 Jan 4. Eur J Med Genet. 2008. PMID: 18262484

4

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling.

Asadollahi R, Strauss JE, Zenker M, Beuing O, Edvardson S, Elpeleg O, Strom TM, Joset P, Niedrist D, Otte C, Oneda B, Boonsawat P, Azzarello-Burri S, Bartholdi D, Papik M, Zweier M, Haas C, Ekici AB, Baumer A, Boltshauser E, Steindl K, Nothnagel M, Schinzel A, Stoeckli ET, Rauch A. Asadollahi R, et al. Among authors: schinzel a. Eur J Hum Genet. 2018 Feb;26(2):197-209. doi: 10.1038/s41431-017-0019-9. Epub 2018 Jan 10. Eur J Hum Genet. 2018. PMID: 29321670 Free PMC article.

5

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.

Bartholdi D, Krajewska-Walasek M, Ounap K, Gaspar H, Chrzanowska KH, Ilyana H, Kayserili H, Lurie IW, Schinzel A, Baumer A. Bartholdi D, et al. Among authors: schinzel a. J Med Genet. 2009 Mar;46(3):192-7. doi: 10.1136/jmg.2008.061820. Epub 2008 Dec 9. J Med Genet. 2009. PMID: 19066168 Free article.

6

The acrocallosal syndrome and Greig syndrome are not allelic disorders.

Brueton LA, Chotai KA, van Herwerden L, Schinzel A, Winter RM. Brueton LA, et al. Among authors: schinzel a. J Med Genet. 1992 Sep;29(9):635-7. doi: 10.1136/jmg.29.9.635. J Med Genet. 1992. PMID: 1404293 Free PMC article.

7

The acrocallosal syndrome in first cousins: widening of the spectrum of clinical features and further support for autosomal recessive inheritance.

Schinzel A. Schinzel A. J Med Genet. 1988 May;25(5):332-6. doi: 10.1136/jmg.25.5.332. J Med Genet. 1988. PMID: 3385741 Free PMC article.

8

Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene.

Bartholdi D, Klein A, Weissert M, Koenig N, Baumer A, Boltshauser E, Schinzel A, Berger W, Mátyás G. Bartholdi D, et al. Among authors: schinzel a. Clin Genet. 2006 Apr;69(4):319-26. doi: 10.1111/j.1399-0004.2006.00604.x. Clin Genet. 2006. PMID: 16630165

9

Acrocallosal syndrome in an Algerian boy born to consanguineous parents: review of the literature and further delineation of the syndrome.

Courtens W, Vamos E, Christophe C, Schinzel A. Courtens W, et al. Among authors: schinzel a. Am J Med Genet. 1997 Mar 3;69(1):17-22. doi: 10.1002/(sici)1096-8628(19970303)69:1<17::aid-ajmg4>3.0.co;2-q. Am J Med Genet. 1997. PMID: 9066878

10

The acrocallosal syndrome in sisters.

Schinzel A, Kaufmann U. Schinzel A, et al. Clin Genet. 1986 Nov;30(5):399-405. doi: 10.1111/j.1399-0004.1986.tb01897.x. Clin Genet. 1986. PMID: 3802558

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