Hellenbroich Y - Search Results

1

ANKRD11 variants: KBG syndrome and beyond.

Parenti I, Mallozzi MB, Hüning I, Gervasini C, Kuechler A, Agolini E, Albrecht B, Baquero-Montoya C, Bohring A, Bramswig NC, Busche A, Dalski A, Guo Y, Hanker B, Hellenbroich Y, Horn D, Innes AM, Leoni C, Li YR, Lynch SA, Mariani M, Medne L, Mikat B, Milani D, Onesimo R, Ortiz-Gonzalez X, Prott EC, Reutter H, Rossier E, Selicorni A, Wieacker P, Wilkens A, Wieczorek D, Zackai EH, Zampino G, Zirn B, Hakonarson H, Deardorff MA, Gillessen-Kaesbach G, Kaiser FJ. Parenti I, et al. Among authors: hellenbroich y. Clin Genet. 2021 Aug;100(2):187-200. doi: 10.1111/cge.13977. Epub 2021 May 14. Clin Genet. 2021. PMID: 33955014 Free article.

2

Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia.

Zühlke C, Hellenbroich Y, Dalski A, Kononowa N, Hagenah J, Vieregge P, Riess O, Klein C, Schwinger E. Zühlke C, et al. Among authors: hellenbroich y. Eur J Hum Genet. 2001 Mar;9(3):160-4. doi: 10.1038/sj.ejhg.5200617. Eur J Hum Genet. 2001. PMID: 11313753

3

Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles.

Zühlke C, Dalski A, Hellenbroich Y, Bubel S, Schwinger E, Bürk K. Zühlke C, et al. Among authors: hellenbroich y. Eur J Hum Genet. 2002 Mar;10(3):204-9. doi: 10.1038/sj.ejhg.5200788. Eur J Hum Genet. 2002. PMID: 11973625

4

Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations.

Zühlke CH, Dalski A, Habeck M, Straube K, Hedrich K, Hoeltzenbein M, Konstanzer A, Hellenbroich Y, Schwinger E. Zühlke CH, et al. Among authors: hellenbroich y. Eur J Hum Genet. 2004 Nov;12(11):979-82. doi: 10.1038/sj.ejhg.5201257. Eur J Hum Genet. 2004. PMID: 15340363

5

Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias.

Dalski A, Atici J, Kreuz FR, Hellenbroich Y, Schwinger E, Zühlke C. Dalski A, et al. Among authors: hellenbroich y. Eur J Hum Genet. 2005 Jan;13(1):118-20. doi: 10.1038/sj.ejhg.5201286. Eur J Hum Genet. 2005. PMID: 15470364

6

Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region.

Botzenhart EM, Bartalini G, Blair E, Brady AF, Elmslie F, Chong KL, Christy K, Torres-Martinez W, Danesino C, Deardorff MA, Fryns JP, Marlin S, Garcia-Minaur S, Hellenbroich Y, Hay BN, Penttinen M, Shashi V, Terhal P, Van Maldergem L, Whiteford ML, Zackai E, Kohlhase J. Botzenhart EM, et al. Among authors: hellenbroich y. Hum Mutat. 2007 Feb;28(2):204-5. doi: 10.1002/humu.9476. Hum Mutat. 2007. PMID: 17221874

7

Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata.

Hellenbroich Y, Grzeschik KH, Krapp M, Jarutat T, Lehrmann-Petersen C, Buiting K, Gillessen-Kaesbach G. Hellenbroich Y, et al. Eur J Med Genet. 2007 Sep-Oct;50(5):392-8. doi: 10.1016/j.ejmg.2007.05.004. Epub 2007 Jun 3. Eur J Med Genet. 2007. PMID: 17625999

8

Homozygous myotonic dystrophy: clinical findings in two patients and review of the literature.

Zühlke C, Roeder E, Purmann S, Wieczorek D, Curry C, Loustalet C, Hellenbroich Y, Richardt HH, Gillessen-Kaesbach G. Zühlke C, et al. Among authors: hellenbroich y. Am J Med Genet A. 2007 Sep 1;143A(17):2058-61. doi: 10.1002/ajmg.a.31772. Am J Med Genet A. 2007. PMID: 17663477 Review. No abstract available.

9

Four patients with speech delay, seizures and variable corpus callosum thickness sharing a 0.440 Mb deletion in region 1q44 containing the HNRPU gene.

Caliebe A, Kroes HY, van der Smagt JJ, Martin-Subero JI, Tönnies H, van 't Slot R, Nievelstein RA, Muhle H, Stephani U, Alfke K, Stefanova I, Hellenbroich Y, Gillessen-Kaesbach G, Hochstenbach R, Siebert R, Poot M. Caliebe A, et al. Among authors: hellenbroich y. Eur J Med Genet. 2010 Jul-Aug;53(4):179-85. doi: 10.1016/j.ejmg.2010.04.001. Epub 2010 Apr 9. Eur J Med Genet. 2010. PMID: 20382278

10

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes.

Endele S, Rosenberger G, Geider K, Popp B, Tamer C, Stefanova I, Milh M, Kortüm F, Fritsch A, Pientka FK, Hellenbroich Y, Kalscheuer VM, Kohlhase J, Moog U, Rappold G, Rauch A, Ropers HH, von Spiczak S, Tönnies H, Villeneuve N, Villard L, Zabel B, Zenker M, Laube B, Reis A, Wieczorek D, Van Maldergem L, Kutsche K. Endele S, et al. Among authors: hellenbroich y. Nat Genet. 2010 Nov;42(11):1021-6. doi: 10.1038/ng.677. Epub 2010 Oct 3. Nat Genet. 2010. PMID: 20890276

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