Hinkel GK - Search Results

1

Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region.

Horn D, Neitzel H, Tönnies H, Kalscheuer V, Kunze J, Hinkel GK, Bartsch O. Horn D, et al. Among authors: hinkel gk. Am J Med Genet A. 2003 Mar 15;117A(3):236-44. doi: 10.1002/ajmg.a.10017. Am J Med Genet A. 2003. PMID: 12599186 Review.

2

Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3.

Horn D, Tönnies H, Neitzel H, Wahl D, Hinkel GK, von Moers A, Bartsch O. Horn D, et al. Among authors: hinkel gk. Am J Med Genet A. 2004 Jul 1;128A(1):85-92. doi: 10.1002/ajmg.a.30031. Am J Med Genet A. 2004. PMID: 15211664

3

Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11.

Bartsch O, Wuyts W, Van Hul W, Hecht JT, Meinecke P, Hogue D, Werner W, Zabel B, Hinkel GK, Powell CM, Shaffer LG, Willems PJ. Bartsch O, et al. Among authors: hinkel gk. Am J Hum Genet. 1996 Apr;58(4):734-42. Am J Hum Genet. 1996. PMID: 8644736 Free PMC article.

4

A small deletion of 16q23.1-->16q24.2 [del(16)(q23.1q24.2).ish del(16)(q23.1q24.2)(D16S395+, D16S348-, P5432+)] in a boy with iris coloboma and minor anomalies.

Werner W, Kraft S, Callen DF, Bartsch O, Hinkel GK. Werner W, et al. Among authors: hinkel gk. Am J Med Genet. 1997 Jun 27;70(4):371-6. Am J Med Genet. 1997. PMID: 9182777

5

Evidence for a critical region for penoscrotal inversion, hypospadias, and imperforate anus within chromosomal region 13q32.2q34.

Bartsch O, Kuhnle U, Wu LL, Schwinger E, Hinkel GK. Bartsch O, et al. Among authors: hinkel gk. Am J Med Genet. 1996 Oct 28;65(3):218-21. doi: 10.1002/(SICI)1096-8628(19961028)65:3<218::AID-AJMG9>3.0.CO;2-L. Am J Med Genet. 1996. PMID: 9240747

6

A large family with subtelomeric translocation t(18;21)(q23;q22.1) and molecular breakpoint in the Down syndrome critical region.

Bartsch O, Hinkel GK, Petersen MB, König U, Bugge M, Mikkelsen M, Avramopoulos D, Morris M, Antonarakis SE. Bartsch O, et al. Among authors: hinkel gk. Hum Genet. 1997 Oct;100(5-6):669-75. doi: 10.1007/s004390050571. Hum Genet. 1997. PMID: 9341890

7

Deletion mapping by FISH with BACs in patients with partial monosomy 22q13.

Schröder K, Schuffenhauer S, Seidel H, Bartsch O, Blin N, Hinkel GK, Schmitt H. Schröder K, et al. Among authors: hinkel gk. Hum Genet. 1998 May;102(5):557-61. doi: 10.1007/s004390050739. Hum Genet. 1998. PMID: 9654204

8

Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome.

Horn D, Chyrek M, Kleier S, Lüttgen S, Bolz H, Hinkel GK, Korenke GC, Riess A, Schell-Apacik C, Tinschert S, Wieczorek D, Gillessen-Kaesbach G, Kutsche K. Horn D, et al. Among authors: hinkel gk. Eur J Hum Genet. 2005 May;13(5):563-9. doi: 10.1038/sj.ejhg.5201391. Eur J Hum Genet. 2005. PMID: 15770227

9

No evidence for chromosomal microdeletions at the second DiGeorge syndrome locus on 10p near D10S585.

Bartsch O, Wagner A, Hinkel GK, Lichtner P, Murken J, Schuffenhauer S. Bartsch O, et al. Among authors: hinkel gk. Am J Med Genet. 1999 Apr 23;83(5):425-6. doi: 10.1002/(sici)1096-8628(19990423)83:5<425::aid-ajmg17>3.0.co;2-q. Am J Med Genet. 1999. PMID: 10232757 No abstract available.

10

FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy.

Bartsch O, Wagner A, Hinkel GK, Krebs P, Stumm M, Schmalenberger B, Böhm S, Balci S, Majewski F. Bartsch O, et al. Among authors: hinkel gk. Eur J Hum Genet. 1999 Oct-Nov;7(7):748-56. doi: 10.1038/sj.ejhg.5200378. Eur J Hum Genet. 1999. PMID: 10573006

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

127 results

Search Page

Filters