Schmidt H - Search Results

1

Homozygous XYLT2 variants as a cause of spondyloocular syndrome.

Umair M, Eckstein G, Rudolph G, Strom T, Graf E, Hendig D, Hoover J, Alanay J, Meitinger T, Schmidt H, Ahmad W. Umair M, et al. Among authors: schmidt h. Clin Genet. 2018 Apr;93(4):913-918. doi: 10.1111/cge.13179. Epub 2018 Feb 20. Clin Genet. 2018. PMID: 29136277

2

A familial deletion in the Prader-Willi syndrome region including the imprinting control region.

Schuffenhauer S, Buchholz T, Stengel-Rutkowski S, Buiting K, Schmidt H, Meitinger T. Schuffenhauer S, et al. Among authors: schmidt h. Hum Mutat. 1996;8(3):288-92. doi: 10.1002/(SICI)1098-1004(1996)8:3<288::AID-HUMU18>3.0.CO;2-Z. Hum Mutat. 1996. PMID: 8889594 No abstract available.

3

Retinal detachment and cataract, facial dysmorphism, generalized osteoporosis, immobile spine and platyspondyly in a consanguinous kindred--a possible new syndrome.

Schmidt H, Rudolph G, Hergersberg M, Schneider K, Moradi S, Meitinger T. Schmidt H, et al. Clin Genet. 2001 Feb;59(2):99-105. doi: 10.1034/j.1399-0004.2001.590206.x. Clin Genet. 2001. PMID: 11260210

4

Spondylo-ocular syndrome: a new entity with crystalline lens malformation, cataract, retinal detachment, osteoporosis, and platyspondyly.

Rudolph G, Kalpadakis P, Bettecken T, Lichtner P, Haritoglou C, Hergersberg M, Meitinger T, Schmidt H. Rudolph G, et al. Among authors: schmidt h. Am J Ophthalmol. 2003 May;135(5):681-7. doi: 10.1016/s0002-9394(02)02155-4. Am J Ophthalmol. 2003. PMID: 12719077

5

Bilateral retinal telangiectasia and exudative retinopathy associated with isolated hemihyperplasia.

Haritoglou C, Schmidt H, Rudolph G, Ulbig MW. Haritoglou C, et al. Among authors: schmidt h. Retina. 2003 Aug;23(4):549-52. doi: 10.1097/00006982-200308000-00020. Retina. 2003. PMID: 12972772 No abstract available.

6

Cohen syndrome diagnosis using whole genome arrays.

Rivera-Brugués N, Albrecht B, Wieczorek D, Schmidt H, Keller T, Göhring I, Ekici AB, Tzschach A, Garshasbi M, Franke K, Klopp N, Wichmann HE, Meitinger T, Strom TM, Hempel M. Rivera-Brugués N, et al. Among authors: schmidt h. J Med Genet. 2011 Feb;48(2):136-40. doi: 10.1136/jmg.2010.082206. Epub 2010 Oct 4. J Med Genet. 2011. PMID: 20921020

7

Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration.

Bublitz SK, Alhaddad B, Synofzik M, Kuhl V, Lindner A, Freiberg C, Schmidt H, Strom TM, Haack TB, Deschauer M. Bublitz SK, et al. Among authors: schmidt h. Clin Genet. 2017 Nov;92(5):561-562. doi: 10.1111/cge.13069. Epub 2017 Sep 21. Clin Genet. 2017. PMID: 28940199

8

LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum.

Neuhofer CM, Catarino CB, Schmidt H, Seelos K, Alhaddad B, Haack TB, Klopstock T. Neuhofer CM, et al. Among authors: schmidt h. Neurol Genet. 2020 Aug 4;6(5):e500. doi: 10.1212/NXG.0000000000000500. eCollection 2020 Oct. Neurol Genet. 2020. PMID: 32802957 Free PMC article.

9

Congenital hypothyroidism caused by a novel homozygous mutation in the thyroid peroxidase gene.

Fuchs O, Pfarr N, Pohlenz J, Thanner F, Schmidt H. Fuchs O, et al. Among authors: schmidt h. J Pediatr Endocrinol Metab. 2008 Nov;21(11):1093-7. doi: 10.1515/jpem.2008.21.11.1093. J Pediatr Endocrinol Metab. 2008. PMID: 19189706

10

Myb-like, SWIRM, and MPN domains 1 (MYSM1) deficiency: Genotoxic stress-associated bone marrow failure and developmental aberrations.

Bahrami E, Witzel M, Racek T, Puchałka J, Hollizeck S, Greif-Kohistani N, Kotlarz D, Horny HP, Feederle R, Schmidt H, Sherkat R, Steinemann D, Göhring G, Schlegelbeger B, Albert MH, Al-Herz W, Klein C. Bahrami E, et al. Among authors: schmidt h. J Allergy Clin Immunol. 2017 Oct;140(4):1112-1119. doi: 10.1016/j.jaci.2016.10.053. Epub 2017 Jan 21. J Allergy Clin Immunol. 2017. PMID: 28115216

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