Gimelli S - Search Results

1

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BB, Esko T, Fernandez BA, Fernández-Aranda F, Fernández-Real JM, Gratacòs M, Guilmatre A, Hoyer J, Jarvelin MR, Kooy RF, Kurg A, Le Caignec C, Männik K, Platt OS, Sanlaville D, Van Haelst MM, Villatoro Gomez S, Walha F, Wu BL, Yu Y, Aboura A, Addor MC, Alembik Y, Antonarakis SE, Arveiler B, Barth M, Bednarek N, Béna F, Bergmann S, Beri M, Bernardini L, Blaumeiser B, Bonneau D, Bottani A, Boute O, Brunner HG, Cailley D, Callier P, Chiesa J, Chrast J, Coin L, Coutton C, Cuisset JM, Cuvellier JC, David A, de Freminville B, Delobel B, Delrue MA, Demeer B, Descamps D, Didelot G, Dieterich K, Disciglio V, Doco-Fenzy M, Drunat S, Duban-Bedu B, Dubourg C, El-Sayed Moustafa JS, Elliott P, Faas BH, Faivre L, Faudet A, Fellmann F, Ferrarini A, Fisher R, Flori E, Forer L, Gaillard D, Gerard M, Gieger C, Gimelli S, Gimelli G, Grabe HJ, Guichet A, Guillin O, Hartikainen AL, Heron D, Hippolyte L, Holder M, Homuth G, Isidor B, Jaillard S, Jaros Z, Jiménez-Murcia S, Helas GJ, Jonveaux P, Kaksonen… See abstract for full author list ➔ Jacquemont S, et al. Among authors: gimelli s, gimelli g. Nature. 2011 Aug 31;478(7367):97-102. doi: 10.1038/nature10406. Nature. 2011. PMID: 21881559 Free PMC article.

2

A recurrent 14q32.2 microdeletion mediated by expanded TGG repeats.

Béna F, Gimelli S, Migliavacca E, Brun-Druc N, Buiting K, Antonarakis SE, Sharp AJ. Béna F, et al. Among authors: gimelli s. Hum Mol Genet. 2010 May 15;19(10):1967-73. doi: 10.1093/hmg/ddq075. Epub 2010 Feb 23. Hum Mol Genet. 2010. PMID: 20179077

3

De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features.

Makrythanasis P, Moix I, Gimelli S, Fluss J, Aliferis K, Antonarakis SE, Morris MA, Béna F, Bottani A. Makrythanasis P, et al. Among authors: gimelli s. Clin Genet. 2010 Aug;78(2):175-80. doi: 10.1111/j.1399-0004.2010.01371.x. Epub 2010 Jan 5. Clin Genet. 2010. PMID: 20236124

4

Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype?

Makrythanasis P, Gimelli S, Béna F, Dahoun S, Morris MA, Antonarakis SE, Bottani A. Makrythanasis P, et al. Among authors: gimelli s. Eur J Med Genet. 2012 Jan;55(1):63-6. doi: 10.1016/j.ejmg.2011.11.001. Epub 2011 Nov 10. Eur J Med Genet. 2012. PMID: 22080113

5

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.

Béna F, Bruno DL, Eriksson M, van Ravenswaaij-Arts C, Stark Z, Dijkhuizen T, Gerkes E, Gimelli S, Ganesamoorthy D, Thuresson AC, Labalme A, Till M, Bilan F, Pasquier L, Kitzis A, Dubourgm C, Rossi M, Bottani A, Gagnebin M, Sanlaville D, Gilbert-Dussardier B, Guipponi M, van Haeringen A, Kriek M, Ruivenkamp C, Antonarakis SE, Anderlid BM, Slater HR, Schoumans J. Béna F, et al. Among authors: gimelli s. Am J Med Genet B Neuropsychiatr Genet. 2013 Jun;162B(4):388-403. doi: 10.1002/ajmg.b.32148. Epub 2013 Mar 26. Am J Med Genet B Neuropsychiatr Genet. 2013. PMID: 23533028 Review.

6

Array-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation.

Gimelli S, Divizia MT, Lerone M, Bricco L, Béna F, Antonarakis SE, Ravazzolo R, Gimelli G. Gimelli S, et al. Among authors: gimelli g. Am J Med Genet A. 2010 Aug;152A(8):2130-3. doi: 10.1002/ajmg.a.33517. Am J Med Genet A. 2010. PMID: 20635368 No abstract available.

7

Characterization of an interstitial deletion 6q13-q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms.

Lespinasse J, Gimelli S, Béna F, Antonarakis SE, Ansermet F, Paoloni-Giacobino A. Lespinasse J, et al. Among authors: gimelli s. Eur J Med Genet. 2009 Jan-Feb;52(1):49-52. doi: 10.1016/j.ejmg.2008.10.001. Epub 2008 Oct 21. Eur J Med Genet. 2009. PMID: 18992376

8

Recurrent microdeletion 2q21.1: report on a new patient with neurological disorders.

Gimelli S, Stathaki E, Béna F, Leoni M, Di Rocco M, Cuoco C, Tassano E. Gimelli S, et al. Am J Med Genet A. 2014 Mar;164A(3):801-5. doi: 10.1002/ajmg.a.36357. Epub 2013 Dec 20. Am J Med Genet A. 2014. PMID: 24591035

9

Mild intellectual disability associated with a progeny of father-daughter incest: genetic and environmental considerations.

Ansermet F, Lespinasse J, Gimelli S, Béna F, Paoloni-Giacobino A. Ansermet F, et al. Among authors: gimelli s. J Child Sex Abus. 2010 May;19(3):337-44. doi: 10.1080/10538711003788991. J Child Sex Abus. 2010. PMID: 20509080

10

Molecular characterization of a t(2;6) balanced translocation that is associated with a complex phenotype and leads to truncation of the TCBA1 gene.

Bocciardi R, Giorda R, Marigo V, Zordan P, Montanaro D, Gimelli S, Seri M, Lerone M, Ravazzolo R, Gimelli G. Bocciardi R, et al. Among authors: gimelli s, gimelli g. Hum Mutat. 2005 Nov;26(5):426-36. doi: 10.1002/humu.20235. Hum Mutat. 2005. PMID: 16145689

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