Hehr U - Search Results

1

Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation.

Edener U, Wöllner J, Hehr U, Kohl Z, Schilling S, Kreuz F, Bauer P, Bernard V, Gillessen-Kaesbach G, Zühlke C. Edener U, et al. Among authors: hehr u. Eur J Hum Genet. 2010 Aug;18(8):965-8. doi: 10.1038/ejhg.2010.40. Epub 2010 Mar 31. Eur J Hum Genet. 2010. PMID: 20354562 Free PMC article.

2

Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6.

Busche A, Hehr U, Sieg P, Gillessen-Kaesbach G. Busche A, et al. Among authors: hehr u. Am J Med Genet A. 2016 Sep;170(9):2404-7. doi: 10.1002/ajmg.a.37791. Epub 2016 Jun 10. Am J Med Genet A. 2016. PMID: 27286731

3

High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.

Günther S, Elert-Dobkowska E, Soehn AS, Hinreiner S, Yoon G, Heller R, Hellenbroich Y, Hübner CA, Ray PN, Hehr U, Bauer P, Sulek A, Beetz C. Günther S, et al. Among authors: hehr u. Hum Mutat. 2016 Jul;37(7):703-9. doi: 10.1002/humu.23000. Epub 2016 Apr 28. Hum Mutat. 2016. PMID: 27071356

4

Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.

Hehr U, Bauer P, Winner B, Schule R, Olmez A, Koehler W, Uyanik G, Engel A, Lenz D, Seibel A, Hehr A, Ploetz S, Gamez J, Rolfs A, Weis J, Ringer TM, Bonin M, Schuierer G, Marienhagen J, Bogdahn U, Weber BH, Topaloglu H, Schols L, Riess O, Winkler J. Hehr U, et al. Among authors: hehr a. Ann Neurol. 2007 Dec;62(6):656-65. doi: 10.1002/ana.21310. Ann Neurol. 2007. PMID: 18067136

5

Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization.

Bauer P, Winner B, Schüle R, Bauer C, Häfele V, Hehr U, Bonin M, Walter M, Karle K, Ringer TM, Riess O, Winkler J, Schöls L. Bauer P, et al. Among authors: hehr u. Neurogenetics. 2009 Feb;10(1):43-8. doi: 10.1007/s10048-008-0144-2. Epub 2008 Sep 12. Neurogenetics. 2009. PMID: 18787847

6

Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype.

Larsen M, Kress W, Schoser B, Hehr U, Müller CR, Rost S. Larsen M, et al. Among authors: hehr u. Eur J Hum Genet. 2016 Oct;24(10):1467-72. doi: 10.1038/ejhg.2016.41. Epub 2016 May 25. Eur J Hum Genet. 2016. PMID: 27222292 Free PMC article.

7

Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother?

Wieczorek D, Shaw-Smith C, Kohlhase J, Schmitt W, Buiting K, Coffey A, Howard E, Hehr U, Gillessen-Kaesbach G. Wieczorek D, et al. Among authors: hehr u. Am J Med Genet A. 2007 Jun 1;143A(11):1135-42. doi: 10.1002/ajmg.a.31752. Am J Med Genet A. 2007. PMID: 17497718

8

Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons.

Havlicek S, Kohl Z, Mishra HK, Prots I, Eberhardt E, Denguir N, Wend H, Plötz S, Boyer L, Marchetto MC, Aigner S, Sticht H, Groemer TW, Hehr U, Lampert A, Schlötzer-Schrehardt U, Winkler J, Gage FH, Winner B. Havlicek S, et al. Among authors: hehr u. Hum Mol Genet. 2014 May 15;23(10):2527-41. doi: 10.1093/hmg/ddt644. Epub 2013 Dec 30. Hum Mol Genet. 2014. PMID: 24381312 Free PMC article.

9

Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia.

Schüle R, Schlipf N, Synofzik M, Klebe S, Klimpe S, Hehr U, Winner B, Lindig T, Dotzer A, Riess O, Winkler J, Schöls L, Bauer P. Schüle R, et al. Among authors: hehr u. J Neurol Neurosurg Psychiatry. 2009 Dec;80(12):1402-4. doi: 10.1136/jnnp.2008.167528. J Neurol Neurosurg Psychiatry. 2009. PMID: 19917823

10

Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome.

Wieczorek D, Gener B, González MJ, Seland S, Fischer S, Hehr U, Kuechler A, Hoefsloot LH, de Leeuw N, Gillessen-Kaesbach G, Lohmann DR. Wieczorek D, et al. Among authors: hehr u. Am J Med Genet A. 2009 May;149A(5):837-43. doi: 10.1002/ajmg.a.32747. Am J Med Genet A. 2009. PMID: 19334086

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