Gallati S - Search Results

1

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy.

Syrbe S, Hedrich UBS, Riesch E, Djémié T, Müller S, Møller RS, Maher B, Hernandez-Hernandez L, Synofzik M, Caglayan HS, Arslan M, Serratosa JM, Nothnagel M, May P, Krause R, Löffler H, Detert K, Dorn T, Vogt H, Krämer G, Schöls L, Mullis PE, Linnankivi T, Lehesjoki AE, Sterbova K, Craiu DC, Hoffman-Zacharska D, Korff CM, Weber YG, Steinlin M, Gallati S, Bertsche A, Bernhard MK, Merkenschlager A, Kiess W; EuroEPINOMICS RES consortium; Gonzalez M, Züchner S, Palotie A, Suls A, De Jonghe P, Helbig I, Biskup S, Wolff M, Maljevic S, Schüle R, Sisodiya SM, Weckhuysen S, Lerche H, Lemke JR. Syrbe S, et al. Among authors: gallati s. Nat Genet. 2015 Apr;47(4):393-399. doi: 10.1038/ng.3239. Epub 2015 Mar 9. Nat Genet. 2015. PMID: 25751627 Free PMC article.

2

New autosomal recessive mutation of the TSH-beta subunit gene causing central isolated hypothyroidism.

Vuissoz JM, Deladoëy J, Buyukgebiz A, Cemeroglu P, Gex G, Gallati S, Mullis PE. Vuissoz JM, et al. Among authors: gallati s. J Clin Endocrinol Metab. 2001 Sep;86(9):4468-71. doi: 10.1210/jcem.86.9.7876. J Clin Endocrinol Metab. 2001. PMID: 11549695

3

Reduced longevity in untreated patients with isolated growth hormone deficiency.

Besson A, Salemi S, Gallati S, Jenal A, Horn R, Mullis PS, Mullis PE. Besson A, et al. Among authors: gallati s. J Clin Endocrinol Metab. 2003 Aug;88(8):3664-7. doi: 10.1210/jc.2002-021938. J Clin Endocrinol Metab. 2003. PMID: 12915652

4

New N-terminal located mutation (Q4ter) within the POU1F1-gene (PIT-1) causes recessive combined pituitary hormone deficiency and variable phenotype.

Salemi S, Besson A, Eblé A, Gallati S, Pfäffle RW, Mullis PE. Salemi S, et al. Among authors: gallati s. Growth Horm IGF Res. 2003 Oct;13(5):264-8. doi: 10.1016/s1096-6374(03)00015-7. Growth Horm IGF Res. 2003. PMID: 12932747

5

Primary GH insensitivity '(Laron syndrome) caused by a novel 4 kb deletion encompassing exon 5 of the GH receptor gene: effect of intermittent long-term treatment with recombinant human IGF-I.

Besson A, Salemi S, Eblé A, Joncourt F, Gallati S, Jorge AA, Mullis PE. Besson A, et al. Among authors: gallati s. Eur J Endocrinol. 2004 May;150(5):635-42. doi: 10.1530/eje.0.1500635. Eur J Endocrinol. 2004. PMID: 15132718

6

Neuropsychological impairments and the impact of dystrophin mutations on general cognitive functioning of patients with Duchenne muscular dystrophy.

Wingeier K, Giger E, Strozzi S, Kreis R, Joncourt F, Conrad B, Gallati S, Steinlin M. Wingeier K, et al. Among authors: gallati s. J Clin Neurosci. 2011 Jan;18(1):90-5. doi: 10.1016/j.jocn.2010.07.118. Epub 2010 Nov 24. J Clin Neurosci. 2011. PMID: 21109441

7

Contiguous ∼16 Mb 1p36 deletion: Dominant features of classical distal 1p36 monosomy with haplo-lethality.

Nicoulaz A, Rubi F, Lieder L, Wolf R, Goeggel-Simonetti B, Steinlin M, Wiest R, Bonel HM, Schaller A, Gallati S, Conrad B. Nicoulaz A, et al. Among authors: gallati s. Am J Med Genet A. 2011 Aug;155A(8):1964-8. doi: 10.1002/ajmg.a.33210. Epub 2011 Jul 7. Am J Med Genet A. 2011. PMID: 21739569

8

Targeted next generation sequencing as a diagnostic tool in epileptic disorders.

Lemke JR, Riesch E, Scheurenbrand T, Schubach M, Wilhelm C, Steiner I, Hansen J, Courage C, Gallati S, Bürki S, Strozzi S, Simonetti BG, Grunt S, Steinlin M, Alber M, Wolff M, Klopstock T, Prott EC, Lorenz R, Spaich C, Rona S, Lakshminarasimhan M, Kröll J, Dorn T, Krämer G, Synofzik M, Becker F, Weber YG, Lerche H, Böhm D, Biskup S. Lemke JR, et al. Among authors: gallati s. Epilepsia. 2012 Aug;53(8):1387-98. doi: 10.1111/j.1528-1167.2012.03516.x. Epub 2012 May 21. Epilepsia. 2012. PMID: 22612257 Free article.

9

Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy.

Goeggel Simonetti B, Rieubland C, Courage C, Strozzi S, Tschumi S, Gallati S, Lemke JR. Goeggel Simonetti B, et al. Among authors: gallati s. Epilepsia. 2012 Dec;53(12):2128-34. doi: 10.1111/j.1528-1167.2012.03676.x. Epub 2012 Sep 27. Epilepsia. 2012. PMID: 23016767 Free article. Review.

10

Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals.

Epi25 Collaborative. Electronic address: s.berkovic@unimelb.edu.au; Epi25 Collaborative. Epi25 Collaborative. Electronic address: s.berkovic@unimelb.edu.au, et al. Am J Hum Genet. 2019 Aug 1;105(2):267-282. doi: 10.1016/j.ajhg.2019.05.020. Epub 2019 Jul 18. Am J Hum Genet. 2019. PMID: 31327507 Free PMC article.

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