Nanda I - Search Results

1

Detection of pericentric inversion with breakpoint in DMD by whole genome sequencing.

Zaum AK, Nanda I, Kress W, Rost S. Zaum AK, et al. Among authors: nanda i. Mol Genet Genomic Med. 2022 Oct;10(10):e2028. doi: 10.1002/mgg3.2028. Epub 2022 Aug 1. Mol Genet Genomic Med. 2022. PMID: 35912688 Free PMC article.

2

ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity.

Hirata H, Nanda I, van Riesen A, McMichael G, Hu H, Hambrock M, Papon MA, Fischer U, Marouillat S, Ding C, Alirol S, Bienek M, Preisler-Adams S, Grimme A, Seelow D, Webster R, Haan E, MacLennan A, Stenzel W, Yap TY, Gardner A, Nguyen LS, Shaw M, Lebrun N, Haas SA, Kress W, Haaf T, Schellenberger E, Chelly J, Viot G, Shaffer LG, Rosenfeld JA, Kramer N, Falk R, El-Khechen D, Escobar LF, Hennekam R, Wieacker P, Hübner C, Ropers HH, Gecz J, Schuelke M, Laumonnier F, Kalscheuer VM. Hirata H, et al. Among authors: nanda i. Am J Hum Genet. 2013 May 2;92(5):681-95. doi: 10.1016/j.ajhg.2013.03.021. Epub 2013 Apr 25. Am J Hum Genet. 2013. PMID: 23623388 Free PMC article.

3

Mild haemophilia A in a female patient with a large X-chromosomal deletion and a missense mutation in the F8 gene--a case report.

Rost S, Aumann V, Nanda I, Oldenburg J, Müller CR. Rost S, et al. Among authors: nanda i. Haemophilia. 2013 Sep;19(5):e310-3. doi: 10.1111/hae.12190. Epub 2013 May 28. Haemophilia. 2013. PMID: 23710598 No abstract available.

4

Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6.

Rost S, Bach E, Neuner C, Nanda I, Dysek S, Bittner RE, Keller A, Bartsch O, Mlynski R, Haaf T, Müller CR, Kunstmann E. Rost S, et al. Among authors: nanda i. Eur J Hum Genet. 2014 Feb;22(2):208-15. doi: 10.1038/ejhg.2013.108. Epub 2013 May 29. Eur J Hum Genet. 2014. PMID: 23714752 Free PMC article.

5

Targeted Molecular Analysis in Adrenocortical Carcinomas: A Strategy Toward Improved Personalized Prognostication.

Lippert J, Appenzeller S, Liang R, Sbiera S, Kircher S, Altieri B, Nanda I, Weigand I, Gehrig A, Steinhauer S, Riemens RJM, Rosenwald A, Müller CR, Kroiss M, Rost S, Fassnacht M, Ronchi CL. Lippert J, et al. Among authors: nanda i. J Clin Endocrinol Metab. 2018 Dec 1;103(12):4511-4523. doi: 10.1210/jc.2018-01348. J Clin Endocrinol Metab. 2018. PMID: 30113656

6

A RAD-tag genetic map for the platyfish (Xiphophorus maculatus) reveals mechanisms of karyotype evolution among teleost fish.

Amores A, Catchen J, Nanda I, Warren W, Walter R, Schartl M, Postlethwait JH. Amores A, et al. Among authors: nanda i. Genetics. 2014 Jun;197(2):625-41. doi: 10.1534/genetics.114.164293. Epub 2014 Apr 2. Genetics. 2014. PMID: 24700104 Free PMC article.

7

Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.

Vona B, Müller T, Nanda I, Neuner C, Hofrichter MA, Schröder J, Bartsch O, Läßig A, Keilmann A, Schraven S, Kraus F, Shehata-Dieler W, Haaf T. Vona B, et al. Among authors: nanda i. Genet Med. 2014 Dec;16(12):945-53. doi: 10.1038/gim.2014.65. Epub 2014 May 29. Genet Med. 2014. PMID: 24875298 Free PMC article.

8

DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics.

Vona B, Hofrichter MA, Neuner C, Schröder J, Gehrig A, Hennermann JB, Kraus F, Shehata-Dieler W, Klopocki E, Nanda I, Haaf T. Vona B, et al. Among authors: nanda i. Clin Genet. 2015;87(1):49-55. doi: 10.1111/cge.12332. Epub 2014 Jan 21. Clin Genet. 2015. PMID: 26011646 Free PMC article.

9

Independent Origin of XY and ZW Sex Determination Mechanisms in Mosquitofish Sister Species.

Kottler VA, Feron R, Nanda I, Klopp C, Du K, Kneitz S, Helmprobst F, Lamatsch DK, Lopez-Roques C, Lluch J, Journot L, Parrinello H, Guiguen Y, Schartl M. Kottler VA, et al. Among authors: nanda i. Genetics. 2020 Jan;214(1):193-209. doi: 10.1534/genetics.119.302698. Epub 2019 Nov 8. Genetics. 2020. PMID: 31704715 Free PMC article.

10

Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families.

Doll J, Vona B, Schnapp L, Rüschendorf F, Khan I, Khan S, Muhammad N, Alam Khan S, Nawaz H, Khan A, Ahmad N, Kolb SM, Kühlewein L, Labonne JDJ, Layman LC, Hofrichter MAH, Röder T, Dittrich M, Müller T, Graves TD, Kong IK, Nanda I, Kim HG, Haaf T. Doll J, et al. Among authors: nanda i. Genes (Basel). 2020 Nov 11;11(11):1329. doi: 10.3390/genes11111329. Genes (Basel). 2020. PMID: 33187236 Free PMC article.

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