Hellenbroich Y - Search Results

1

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

2

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.

3

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

4

Two dominantly inherited ataxias linked to chromosome 16q22.1: SCA4 and SCA31 are not allelic.

Edener U, Bernard V, Hellenbroich Y, Gillessen-Kaesbach G, Zühlke C. Edener U, et al. Among authors: hellenbroich y. J Neurol. 2011 Jul;258(7):1223-7. doi: 10.1007/s00415-011-5905-4. Epub 2011 Jan 26. J Neurol. 2011. PMID: 21267591

5

A 1 Mb-sized microdeletion Xq26.2 encompassing the GPC3 gene in a fetus with Simpson-Golabi-Behmel syndrome Report, antenatal findings and review.

Weichert J, Schröer A, Amari F, Siebert R, Caliebe A, Nagel I, Gillessen-Kaesbach G, Mohrmann I, Hellenbroich Y. Weichert J, et al. Among authors: hellenbroich y. Eur J Med Genet. 2011 May-Jun;54(3):343-7. doi: 10.1016/j.ejmg.2011.02.009. Epub 2011 Mar 21. Eur J Med Genet. 2011. PMID: 21362501 Review.

6

A de novo 0.57 Mb microdeletion in chromosome 11q13.1 in a patient with speech problems, autistic traits, dysmorphic features and multiple endocrine neoplasia type 1.

Mohrmann I, Gillessen-Kaesbach G, Siebert R, Caliebe A, Hellenbroich Y. Mohrmann I, et al. Among authors: hellenbroich y. Eur J Med Genet. 2011 Jul-Aug;54(4):e461-4. doi: 10.1016/j.ejmg.2011.04.006. Epub 2011 Apr 29. Eur J Med Genet. 2011. PMID: 21600320

7

Beneficial prenatal levodopa therapy in autosomal recessive guanosine triphosphate cyclohydrolase 1 deficiency.

Brüggemann N, Spiegler J, Hellenbroich Y, Opladen T, Schneider SA, Stephani U, Boor R, Gillessen-Kaesbach G, Sperner J, Klein C. Brüggemann N, et al. Among authors: hellenbroich y. Arch Neurol. 2012 Aug;69(8):1071-5. doi: 10.1001/archneurol.2012.104. Arch Neurol. 2012. PMID: 22473768

8

Identification of the recently described plasminogen gene mutation p.Lys330Glu in a family from Northern Germany with hereditary angioedema.

Recke A, Massalme EG, Jappe U, Steinmüller-Magin L, Schmidt J, Hellenbroich Y, Hüning I, Gillessen-Kaesbach G, Zillikens D, Hartmann K. Recke A, et al. Among authors: hellenbroich y. Clin Transl Allergy. 2019 Feb 14;9:9. doi: 10.1186/s13601-019-0247-x. eCollection 2019. Clin Transl Allergy. 2019. PMID: 30809376 Free PMC article.

9

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.

10

Phenotypic specificity in patients with neurodevelopmental delay does not correlate with diagnostic yield of trio-exome sequencing.

Baalmann N, Spielmann M, Gillessen-Kaesbach G, Hanker B, Schmidt J, Lill CM, Hellenbroich Y, Greiten B, Lohmann K, Trinh J, Hüning I. Baalmann N, et al. Among authors: hellenbroich y. Eur J Med Genet. 2023 Jul;66(7):104774. doi: 10.1016/j.ejmg.2023.104774. Epub 2023 Apr 28. Eur J Med Genet. 2023. PMID: 37120078

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