Joset P - Search Results

1

Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia-telangiectasia mutated gene).

Asadollahi R, Britschgi C, Joset P, Oneda B, Schindler D, Meier UR, Rauch A. Asadollahi R, et al. Among authors: joset p. Mol Genet Genomic Med. 2020 Oct;8(10):e1409. doi: 10.1002/mgg3.1409. Epub 2020 Aug 3. Mol Genet Genomic Med. 2020. PMID: 32748564 Free PMC article.

2

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. Among authors: joset p. Lancet. 2012 Nov 10;380(9854):1674-82. doi: 10.1016/S0140-6736(12)61480-9. Epub 2012 Sep 27. Lancet. 2012. PMID: 23020937

3

Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.

Asadollahi R, Oneda B, Sheth F, Azzarello-Burri S, Baldinger R, Joset P, Latal B, Knirsch W, Desai S, Baumer A, Houge G, Andrieux J, Rauch A. Asadollahi R, et al. Among authors: joset p. Eur J Hum Genet. 2013 Oct;21(10):1100-4. doi: 10.1038/ejhg.2013.17. Epub 2013 Feb 13. Eur J Hum Genet. 2013. PMID: 23403903 Free PMC article.

4

Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene.

Hackenberg A, Baumer A, Sticht H, Schmitt B, Kroell-Seger J, Wille D, Joset P, Papuc S, Rauch A, Plecko B. Hackenberg A, et al. Among authors: joset p. Neuropediatrics. 2014 Aug;45(4):261-4. doi: 10.1055/s-0034-1372302. Epub 2014 Apr 7. Neuropediatrics. 2014. PMID: 24710820 Free article.

5

High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power.

Oneda B, Baldinger R, Reissmann R, Reshetnikova I, Krejci P, Masood R, Ochsenbein-Kölble N, Bartholdi D, Steindl K, Morotti D, Faranda M, Baumer A, Asadollahi R, Joset P, Niedrist D, Breymann C, Hebisch G, Hüsler M, Mueller R, Prentl E, Wisser J, Zimmermann R, Rauch A. Oneda B, et al. Among authors: joset p. Prenat Diagn. 2014 Jun;34(6):525-33. doi: 10.1002/pd.4342. Epub 2014 Mar 21. Prenat Diagn. 2014. PMID: 24919595

6

The clinical significance of small copy number variants in neurodevelopmental disorders.

Asadollahi R, Oneda B, Joset P, Azzarello-Burri S, Bartholdi D, Steindl K, Vincent M, Cobilanschi J, Sticht H, Baldinger R, Reissmann R, Sudholt I, Thiel CT, Ekici AB, Reis A, Bijlsma EK, Andrieux J, Dieux A, FitzPatrick D, Ritter S, Baumer A, Latal B, Plecko B, Jenni OG, Rauch A. Asadollahi R, et al. Among authors: joset p. J Med Genet. 2014 Oct;51(10):677-88. doi: 10.1136/jmedgenet-2014-102588. Epub 2014 Aug 8. J Med Genet. 2014. PMID: 25106414 Free PMC article.

7

Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.

Rosin N, Elcioglu NH, Beleggia F, Isgüven P, Altmüller J, Thiele H, Steindl K, Joset P, Rauch A, Nürnberg P, Wollnik B, Yigit G. Rosin N, et al. Among authors: joset p. Hum Mol Genet. 2015 Jul 1;24(13):3708-17. doi: 10.1093/hmg/ddv115. Epub 2015 Apr 3. Hum Mol Genet. 2015. PMID: 25839420 Free article.

8

A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations.

Giarrana ML, Joset P, Sticht H, Robb S, Steindl K, Rauch A, Klein A. Giarrana ML, et al. Among authors: joset p. Muscle Nerve. 2015 Oct;52(4):668-73. doi: 10.1002/mus.24687. Epub 2015 Jun 1. Muscle Nerve. 2015. PMID: 25900532 Free article.

9

N(8)-acetylspermidine as a potential plasma biomarker for Snyder-Robinson syndrome identified by clinical metabolomics.

Abela L, Simmons L, Steindl K, Schmitt B, Mastrangelo M, Joset P, Papuc M, Sticht H, Baumer A, Crowther LM, Mathis D, Rauch A, Plecko B. Abela L, et al. Among authors: joset p. J Inherit Metab Dis. 2016 Jan;39(1):131-7. doi: 10.1007/s10545-015-9876-y. Epub 2015 Jul 15. J Inherit Metab Dis. 2016. PMID: 26174906 Free article.

10

A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.

Fauth C, Steindl K, Toutain A, Farrell S, Witsch-Baumgartner M, Karall D, Joset P, Böhm S, Baumer A, Maier O, Zschocke J, Weksberg R, Marshall CR, Rauch A. Fauth C, et al. Among authors: joset p. Am J Med Genet A. 2016 Feb;170A(2):392-402. doi: 10.1002/ajmg.a.37452. Epub 2015 Nov 6. Am J Med Genet A. 2016. PMID: 26545172

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