Rappold GA - Search Results

1

Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants.

Khan A, Miao Z, Umair M, Ullah A, Alshabeeb MA, Bilal M, Ahmad F, Rappold GA, Ansar M, Carapito R. Khan A, et al. Among authors: rappold ga. Genes (Basel). 2020 Aug 31;11(9):1021. doi: 10.3390/genes11091021. Genes (Basel). 2020. PMID: 32878022 Free PMC article.

2

Identification of ZBTB26 as a Novel Risk Factor for Congenital Hypothyroidism.

Vick P, Eberle B, Choukair D, Weiss B, Roeth R, Schneider I, Paramasivam N, Bettendorf M, Rappold GA. Vick P, et al. Among authors: rappold ga. Genes (Basel). 2021 Nov 24;12(12):1862. doi: 10.3390/genes12121862. Genes (Basel). 2021. PMID: 34946811 Free PMC article.

3

Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.

Mittal K, Rafiq MA, Rafiullah R, Harripaul R, Ali H, Ayaz M, Aslam M, Naeem F, Amin-Ud-Din M, Waqas A, So J, Rappold GA, Vincent JB, Ayub M. Mittal K, et al. Among authors: rappold ga. J Hum Genet. 2016 Oct;61(10):867-872. doi: 10.1038/jhg.2016.62. Epub 2016 Jun 16. J Hum Genet. 2016. PMID: 27305979

4

Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.

Rafiullah R, Aslamkhan M, Paramasivam N, Thiel C, Mustafa G, Wiemann S, Schlesner M, Wade RC, Rappold GA, Berkel S. Rafiullah R, et al. Among authors: rappold ga. J Med Genet. 2016 Feb;53(2):138-44. doi: 10.1136/jmedgenet-2015-103179. Epub 2015 Nov 13. J Med Genet. 2016. PMID: 26566883

5

Disrupted Mitochondrial Network Drives Deficits of Learning and Memory in a Mouse Model of FOXP1 Haploinsufficiency.

Wang J, Rappold GA, Fröhlich H. Wang J, et al. Among authors: rappold ga. Genes (Basel). 2022 Jan 11;13(1):127. doi: 10.3390/genes13010127. Genes (Basel). 2022. PMID: 35052467 Free PMC article.

6

Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability.

Hoyer J, Ekici AB, Endele S, Popp B, Zweier C, Wiesener A, Wohlleber E, Dufke A, Rossier E, Petsch C, Zweier M, Göhring I, Zink AM, Rappold G, Schröck E, Wieczorek D, Riess O, Engels H, Rauch A, Reis A. Hoyer J, et al. Am J Hum Genet. 2012 Mar 9;90(3):565-72. doi: 10.1016/j.ajhg.2012.02.007. Am J Hum Genet. 2012. PMID: 22405089 Free PMC article.

7

Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation.

Berkel S, Marshall CR, Weiss B, Howe J, Roeth R, Moog U, Endris V, Roberts W, Szatmari P, Pinto D, Bonin M, Riess A, Engels H, Sprengel R, Scherer SW, Rappold GA. Berkel S, et al. Among authors: rappold ga. Nat Genet. 2010 Jun;42(6):489-91. doi: 10.1038/ng.589. Epub 2010 May 16. Nat Genet. 2010. PMID: 20473310

8

Genome-wide UPD screening in patients with intellectual disability.

Schroeder C, Ekici AB, Moog U, Grasshoff U, Mau-Holzmann U, Sturm M, Vosseler V, Poths S, Rappold G, Riess A, Riess O, Dufke A, Bonin M. Schroeder C, et al. Eur J Hum Genet. 2014 Oct;22(10):1233-5. doi: 10.1038/ejhg.2014.63. Epub 2014 May 7. Eur J Hum Genet. 2014. PMID: 24801762 Free PMC article.

9

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Röpke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schröck E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM. Rauch A, et al. Lancet. 2012 Nov 10;380(9854):1674-82. doi: 10.1016/S0140-6736(12)61480-9. Epub 2012 Sep 27. Lancet. 2012. PMID: 23020937

10

Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.

Sollis E, Graham SA, Vino A, Froehlich H, Vreeburg M, Dimitropoulou D, Gilissen C, Pfundt R, Rappold GA, Brunner HG, Deriziotis P, Fisher SE. Sollis E, et al. Among authors: rappold ga. Hum Mol Genet. 2016 Feb 1;25(3):546-57. doi: 10.1093/hmg/ddv495. Epub 2015 Dec 8. Hum Mol Genet. 2016. PMID: 26647308

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