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Items: 16

1.

Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.

Hettiaracchchi D, Bonnard C, Jayawardana SMA, Ng AYJ, Tohari S, Venkatesh B, Reversade B, Singaraja R, Dissanayake VHW.

BMC Med Genet. 2018 Jul 24;19(1):125. doi: 10.1186/s12881-018-0646-1.

2.

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome.

Bonnard C, Shboul M, Tonekaboni SH, Ng AYJ, Tohari S, Ghosh K, Lai A, Lim JY, Tan EC, Devisme L, Stichelbout M, Alkindi A, Banu N, Yüksel Z, Ghoumid J, Elkhartoufi N, Boutaud L, Micalizzi A, Brett MS, Venkatesh B, Valente EM, Attié-Bitach T, Reversade B, Kariminejad A.

Eur J Med Genet. 2018 Mar 30. pii: S1769-7212(17)30410-X. doi: 10.1016/j.ejmg.2018.03.012. [Epub ahead of print]

PMID:
29605658
3.

Voltage-gated sodium channel gene repertoire of lampreys: gene duplications, tissue-specific expression and discovery of a long-lost gene.

Zakon HH, Li W, Pillai NE, Tohari S, Shingate P, Ren J, Venkatesh B.

Proc Biol Sci. 2017 Sep 27;284(1863). pii: 20170824. doi: 10.1098/rspb.2017.0824.

PMID:
28931746
4.

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.

Windpassinger C, Piard J, Bonnard C, Alfadhel M, Lim S, Bisteau X, Blouin S, Ali NB, Ng AYJ, Lu H, Tohari S, Talib SZA, van Hul N, Caldez MJ, Van Maldergem L, Yigit G, Kayserili H, Youssef SA, Coppola V, de Bruin A, Tessarollo L, Choi H, Rupp V, Roetzer K, Roschger P, Klaushofer K, Altmüller J, Roy S, Venkatesh B, Ganger R, Grill F, Ben Chehida F, Wollnik B, Altunoglu U, Al Kaissi A, Reversade B, Kaldis P.

Am J Hum Genet. 2017 Sep 7;101(3):391-403. doi: 10.1016/j.ajhg.2017.08.003.

5.

Lampreys, the jawless vertebrates, contain only two ParaHox gene clusters.

Zhang H, Ravi V, Tay BH, Tohari S, Pillai NE, Prasad A, Lin Q, Brenner S, Venkatesh B.

Proc Natl Acad Sci U S A. 2017 Aug 22;114(34):9146-9151. doi: 10.1073/pnas.1704457114. Epub 2017 Aug 7.

6.

Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.

Xue S, Maluenda J, Marguet F, Shboul M, Quevarec L, Bonnard C, Ng AY, Tohari S, Tan TT, Kong MK, Monaghan KG, Cho MT, Siskind CE, Sampson JB, Rocha CT, Alkazaleh F, Gonzales M, Rigonnot L, Whalen S, Gut M, Gut I, Bucourt M, Venkatesh B, Laquerrière A, Reversade B, Melki J.

Am J Hum Genet. 2017 Apr 6;100(4):659-665. doi: 10.1016/j.ajhg.2017.02.006. Epub 2017 Mar 16.

7.

A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.

Oud MM, Bonnard C, Mans DA, Altunoglu U, Tohari S, Ng AYJ, Eskin A, Lee H, Rupar CA, de Wagenaar NP, Wu KM, Lahiry P, Pazour GJ, Nelson SF, Hegele RA, Roepman R, Kayserili H, Venkatesh B, Siu VM, Reversade B, Arts HH.

Cilia. 2016 Apr 11;5:8. doi: 10.1186/s13630-016-0029-1. eCollection 2016.

8.

Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change.

Tafakhori A, Yu Jin Ng A, Tohari S, Venkatesh B, Lee H, Eskin A, Nelson SF, Bonnard C, Reversade B, Kariminejad A.

Arch Iran Med. 2016 Feb;19(2):87-91. doi: 0161902/AIM.004.

9.

Cyclostomes Lack Clustered Protocadherins.

Ravi V, Yu WP, Pillai NE, Lian MM, Tay BH, Tohari S, Brenner S, Venkatesh B.

Mol Biol Evol. 2016 Feb;33(2):311-5. doi: 10.1093/molbev/msv252. Epub 2015 Nov 5.

PMID:
26545918
10.

Elephant shark genome provides unique insights into gnathostome evolution.

Venkatesh B, Lee AP, Ravi V, Maurya AK, Lian MM, Swann JB, Ohta Y, Flajnik MF, Sutoh Y, Kasahara M, Hoon S, Gangu V, Roy SW, Irimia M, Korzh V, Kondrychyn I, Lim ZW, Tay BH, Tohari S, Kong KW, Ho S, Lorente-Galdos B, Quilez J, Marques-Bonet T, Raney BJ, Ingham PW, Tay A, Hillier LW, Minx P, Boehm T, Wilson RK, Brenner S, Warren WC.

Nature. 2014 Jan 9;505(7482):174-9. doi: 10.1038/nature12826. Erratum in: Nature. 2014 Sep 25;513(7519):574.

11.

Evidence for at least six Hox clusters in the Japanese lamprey (Lethenteron japonicum).

Mehta TK, Ravi V, Yamasaki S, Lee AP, Lian MM, Tay BH, Tohari S, Yanai S, Tay A, Brenner S, Venkatesh B.

Proc Natl Acad Sci U S A. 2013 Oct 1;110(40):16044-9. doi: 10.1073/pnas.1315760110. Epub 2013 Sep 16.

12.

A trans-species missense SNP in Amhr2 is associated with sex determination in the tiger pufferfish, Takifugu rubripes (fugu).

Kamiya T, Kai W, Tasumi S, Oka A, Matsunaga T, Mizuno N, Fujita M, Suetake H, Suzuki S, Hosoya S, Tohari S, Brenner S, Miyadai T, Venkatesh B, Suzuki Y, Kikuchi K.

PLoS Genet. 2012;8(7):e1002798. doi: 10.1371/journal.pgen.1002798. Epub 2012 Jul 12.

13.

Characterization of a hypoxia-response element in the Epo locus of the pufferfish, Takifugu rubripes.

Kulkarni RP, Tohari S, Ho A, Brenner S, Venkatesh B.

Mar Genomics. 2010 Jun;3(2):63-70. doi: 10.1016/j.margen.2010.05.001. Epub 2010 Jun 17.

PMID:
21798198
14.

Integration of the genetic map and genome assembly of fugu facilitates insights into distinct features of genome evolution in teleosts and mammals.

Kai W, Kikuchi K, Tohari S, Chew AK, Tay A, Fujiwara A, Hosoya S, Suetake H, Naruse K, Brenner S, Suzuki Y, Venkatesh B.

Genome Biol Evol. 2011;3:424-42. doi: 10.1093/gbe/evr041. Epub 2011 Jun 1.

15.

Erythropoietin gene from a teleost fish, Fugu rubripes.

Chou CF, Tohari S, Brenner S, Venkatesh B.

Blood. 2004 Sep 1;104(5):1498-503. Epub 2004 May 13.

16.

Detailed deletion mapping at chromosome 11q23 in colorectal carcinoma.

Lee AS, Seo YC, Chang A, Tohari S, Eu KW, Seow-Choen F, McGee JO.

Br J Cancer. 2000 Sep;83(6):750-5.

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