Tinschert S - Search Results

1

Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families.

Schrander-Stumpel C, Höweler C, Jones M, Sommer A, Stevens C, Tinschert S, Israel J, Fryns JP. Schrander-Stumpel C, et al. Among authors: tinschert s. Am J Med Genet. 1995 May 22;57(1):107-16. doi: 10.1002/ajmg.1320570122. Am J Med Genet. 1995. PMID: 7645588

2

The spectrum of "complicated spastic paraplegia, MASA syndrome and X-linked hydrocephalus". Contribution of DNA linkage analysis in genetic counseling of individual families.

Schrander-Stumpel C, Meyer H, Merckx D, Jones M, Israel J, Sommer A, Stevens C, Tinschert S, Wilson G, Willems P, et al. Schrander-Stumpel C, et al. Among authors: tinschert s. Genet Couns. 1994;5(1):1-10. Genet Couns. 1994. PMID: 8031529

3

Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?

Hackmann K, Rump A, Haas SA, Lemke JR, Fryns JP, Tzschach A, Wieczorek D, Albrecht B, Kuechler A, Ripperger T, Kobelt A, Oexle K, Tinschert S, Schrock E, Kalscheuer VM, Di Donato N. Hackmann K, et al. Among authors: tinschert s. Am J Med Genet A. 2016 Jan;170A(1):94-102. doi: 10.1002/ajmg.a.37378. Epub 2015 Sep 11. Am J Med Genet A. 2016. PMID: 26358559

4

The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients.

Schrander-Stumpel C, Meinecke P, Wilson G, Gillessen-Kaesbach G, Tinschert S, König R, Philip N, Rizzo R, Schrander J, Pfeiffer L, et al. Schrander-Stumpel C, et al. Among authors: tinschert s. Eur J Pediatr. 1994 Jun;153(6):438-45. doi: 10.1007/BF01983409. Eur J Pediatr. 1994. PMID: 8088300

5

Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.

Ng BG, Hackmann K, Jones MA, Eroshkin AM, He P, Wiliams R, Bhide S, Cantagrel V, Gleeson JG, Paller AS, Schnur RE, Tinschert S, Zunich J, Hegde MR, Freeze HH. Ng BG, et al. Among authors: tinschert s. Am J Hum Genet. 2012 Apr 6;90(4):685-8. doi: 10.1016/j.ajhg.2012.02.010. Epub 2012 Mar 22. Am J Hum Genet. 2012. PMID: 22444671 Free PMC article.

6

Craniometaphyseal dysplasia in six generations of a German kindred.

Tinschert S, Braun HS. Tinschert S, et al. Am J Med Genet. 1998 May 18;77(3):175-81. doi: 10.1002/(sici)1096-8628(19980518)77:3<175::aid-ajmg1>3.0.co;2-p. Am J Med Genet. 1998. PMID: 9605583

7

Macrocephaly, obesity, mental (intellectual) disability, and ocular abnormalities: alternative definition and further delineation of MOMO syndrome.

Di Donato N, Riess A, Hackmann K, Rump A, Huebner A, von der Hagen M, Hahn G, Schrock E, Tinschert S. Di Donato N, et al. Among authors: tinschert s. Am J Med Genet A. 2012 Nov;158A(11):2857-62. doi: 10.1002/ajmg.a.35481. Epub 2012 Jul 20. Am J Med Genet A. 2012. PMID: 22821547

8

Small reciprocal insertion detected by spectral karyotyping (SKY) and delimited by array-CGH analysis.

Matthaei A, Werner W, Gerlach EM, Koerner U, Tinschert S, Nitz I, Herr A, Rump A, Bartsch O, Hinkel KG, Schrock E, Oexle K. Matthaei A, et al. Among authors: tinschert s. Eur J Med Genet. 2005 Jul-Sep;48(3):328-38. doi: 10.1016/j.ejmg.2005.04.024. Eur J Med Genet. 2005. PMID: 16179228

9

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1.

Gregor A, Albrecht B, Bader I, Bijlsma EK, Ekici AB, Engels H, Hackmann K, Horn D, Hoyer J, Klapecki J, Kohlhase J, Maystadt I, Nagl S, Prott E, Tinschert S, Ullmann R, Wohlleber E, Woods G, Reis A, Rauch A, Zweier C. Gregor A, et al. Among authors: tinschert s. BMC Med Genet. 2011 Aug 9;12:106. doi: 10.1186/1471-2350-12-106. BMC Med Genet. 2011. PMID: 21827697 Free PMC article.

10

Dyschromatosis universalis hereditaria: familial case and ultrastructural skin investigation.

Nuber UA, Tinschert S, Mundlos S, Hauber I. Nuber UA, et al. Among authors: tinschert s. Am J Med Genet A. 2004 Mar 15;125A(3):261-6. doi: 10.1002/ajmg.a.20519. Am J Med Genet A. 2004. PMID: 14994234

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