Holinski-Feder E - Search Results

1

Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3).

Holinski-Feder E, Reyniers E, Uhrig S, Golla A, Wauters J, Kroisel P, Bossuyt P, Rost I, Jedele K, Zierler H, Schwab S, Wildenauer D, Speicher MR, Willems PJ, Meitinger T, Kooy RF. Holinski-Feder E, et al. Am J Hum Genet. 2000 Jan;66(1):16-25. doi: 10.1086/302703. Am J Hum Genet. 2000. PMID: 10631133 Free PMC article.

2

MRX42: two linkage intervals, one in the pericentromeric region and one in Xq26, and the impact for carrier risk estimation.

Golla A, Rost I, Jedele KB, Albert A, Murken J, Holinski-Feder E. Golla A, et al. Am J Med Genet. 2002 Jan 1;107(1):18-25. doi: 10.1002/ajmg.10027. Am J Med Genet. 2002. PMID: 11807862

3

Regional localization of two MRX genes to Xq28 (MRX28) and to Xp11.4-Xp22.12 (MRX33).

Holinski-Feder E, Golla A, Rost I, Seidel H, Rittinger O, Meindl A. Holinski-Feder E, et al. Am J Med Genet. 1996 Jul 12;64(1):125-30. doi: 10.1002/(SICI)1096-8628(19960712)64:1<125::AID-AJMG21>3.0.CO;2-O. Am J Med Genet. 1996. PMID: 8826462

4

Nonsyndromic X-linked mental retardation: mapping of MRX58 to the pericentromeric region.

Holinski-Feder E, Chahrockh-Zadeh S, Rittinger O, Jedele KB, Gasteiger M, Lenski C, Murken J, Golla A. Holinski-Feder E, et al. Am J Med Genet. 1999 Sep 10;86(2):102-6. doi: 10.1002/(sici)1096-8628(19990910)86:2<102::aid-ajmg2>3.0.co;2-c. Am J Med Genet. 1999. PMID: 10449641

5

FRAXE testing.

Holinski-Feder E, Chahrokh-Zadeh S, Jedele KB, Meindl A, Steinbach P, Wöhrle D. Holinski-Feder E, et al. Am J Hum Genet. 1996 Nov;59(5):1168-9. Am J Hum Genet. 1996. PMID: 8900249 Free PMC article. No abstract available.

6

Spinal and bulbar muscular atrophy (SBMA): somatic stability of an expanded CAG repeat in fetal tissues.

Jedele KB, Wahl D, Chahrokh-Zadeh S, Wirtz A, Murken J, Holinski-Feder E. Jedele KB, et al. Clin Genet. 1998 Aug;54(2):148-51. doi: 10.1111/j.1399-0004.1998.tb03718.x. Clin Genet. 1998. PMID: 9761394

7

Analysis of the human GDNF gene reveals an inducible promoter, three exons, a triplet repeat within the 3'-UTR and alternative splice products.

Grimm L, Holinski-Feder E, Teodoridis J, Scheffer B, Schindelhauer D, Meitinger T, Ueffing M. Grimm L, et al. Hum Mol Genet. 1998 Nov;7(12):1873-86. doi: 10.1093/hmg/7.12.1873. Hum Mol Genet. 1998. PMID: 9811930

8

Large intergenerational variation in age of onset in two young patients with Huntington's disease presenting as dyskinesia.

Holinski-Feder E, Jedele KB, Hörtnagel K, Albert A, Meindl A, Trenkwalder C. Holinski-Feder E, et al. Pediatrics. 1997 Nov;100(5):896-8. doi: 10.1542/peds.100.5.896. Pediatrics. 1997. PMID: 9346994 No abstract available.

9

Extension of the phenotype of biallelic loss-of-function mutations in SLC25A46 to the severe form of pontocerebellar hypoplasia type I.

Braunisch MC, Gallwitz H, Abicht A, Diebold I, Holinski-Feder E, Van Maldergem L, Lammens M, Kovács-Nagy R, Alhaddad B, Strom TM, Meitinger T, Senderek J, Rudnik-Schöneborn S, Haack TB. Braunisch MC, et al. Clin Genet. 2018 Feb;93(2):255-265. doi: 10.1111/cge.13084. Epub 2017 Nov 8. Clin Genet. 2018. PMID: 28653766

10

The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome.

Pfeifer D, Poulat F, Holinski-Feder E, Kooy F, Scherer G. Pfeifer D, et al. Genomics. 2000 Jan 1;63(1):108-16. doi: 10.1006/geno.1999.6060. Genomics. 2000. PMID: 10662550

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