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Page 1
Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36.
Thiele H, McCann C, van't Padje S, Schwabe GC, Hennies HC, Camera G, Opitz J, Laxova R, Mundlos S, Nürnberg P. Thiele H, et al. J Med Genet. 2004 Mar;41(3):213-8. doi: 10.1136/jmg.2003.014894. J Med Genet. 2004. PMID: 14985386 Free PMC article. No abstract available.
Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia.
Nürnberg P, Thiele H, Chandler D, Höhne W, Cunningham ML, Ritter H, Leschik G, Uhlmann K, Mischung C, Harrop K, Goldblatt J, Borochowitz ZU, Kotzot D, Westermann F, Mundlos S, Braun HS, Laing N, Tinschert S. Nürnberg P, et al. Among authors: thiele h. Nat Genet. 2001 May;28(1):37-41. doi: 10.1038/ng0501-37. Nat Genet. 2001. PMID: 11326272
A genome-wide scan for attention-deficit/hyperactivity disorder in 155 German sib-pairs.
Hebebrand J, Dempfle A, Saar K, Thiele H, Herpertz-Dahlmann B, Linder M, Kiefl H, Remschmidt H, Hemminger U, Warnke A, Knölker U, Heiser P, Friedel S, Hinney A, Schäfer H, Nürnberg P, Konrad K. Hebebrand J, et al. Among authors: thiele h. Mol Psychiatry. 2006 Feb;11(2):196-205. doi: 10.1038/sj.mp.4001761. Mol Psychiatry. 2006. PMID: 16222334 Clinical Trial.
Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia.
Asif M, Khayyat AIA, Alawbathani S, Abdullah U, Sanner A, Georgomanolis T, Haasters J, Becker K, Budde B, Becker C, Thiele H, Baig SM, Isidoro-García M, Winter D, Pogoda HM, Muhammad S, Hammerschmidt M, Kraft F, Kurth I, Martin HG, Wagner M, Nürnberg P, Hussain MS. Asif M, et al. Among authors: thiele h. Genet Med. 2024 Jul;26(7):101143. doi: 10.1016/j.gim.2024.101143. Epub 2024 Apr 16. Genet Med. 2024. PMID: 38641995 Free article.
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
Bobbili DR, Lal D, May P, Reinthaler EM, Jabbari K, Thiele H, Nothnagel M, Jurkowski W, Feucht M, Nürnberg P, Lerche H, Zimprich F, Krause R, Neubauer BA, Reinthaler EM, Zimprich F, Feucht M, Steinböck H, Neophytou B, Geldner J, Gruber-Sedlmayr U, Haberlandt E, Ronen GM, Altmüller J, Lal D, Nürnberg P, Sander T, Thiele H, Krause R, May P, Balling R, Lerche H, Neubauer BA; EUROEPINOMICS COGIE Consortium. Bobbili DR, et al. Among authors: thiele h. Eur J Hum Genet. 2018 Feb;26(2):258-264. doi: 10.1038/s41431-017-0034-x. Epub 2018 Jan 22. Eur J Hum Genet. 2018. PMID: 29358611 Free PMC article.
The interleukin-11 receptor variant p.W307R results in craniosynostosis in humans.
Ahmad I, Lokau J, Kespohl B, Malik NA, Baig SM, Hartig R, Behme D, Schwab R, Altmüller J, Jameel M, Mucha S, Thiele H, Tariq M, Nürnberg P, Erdmann J, Garbers C. Ahmad I, et al. Among authors: thiele h. Sci Rep. 2023 Aug 18;13(1):13479. doi: 10.1038/s41598-023-39466-y. Sci Rep. 2023. PMID: 37596289 Free PMC article.
1,715 results