Gimelli S - Search Results

1

A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis.

Calvel P, Kusz-Zamelczyk K, Makrythanasis P, Janecki D, Borel C, Conne B, Vannier A, Béna F, Gimelli S, Fichna P, Antonarakis SE, Nef S, Jaruzelska J. Calvel P, et al. Among authors: gimelli s. Sex Dev. 2015;9(5):289-95. doi: 10.1159/000441512. Epub 2015 Nov 7. Sex Dev. 2015. PMID: 26544196

2

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

3

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

4

The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice.

Bagheri-Fam S, Chen H, Wilson S, Ayers K, Hughes J, Sloan-Bena F, Calvel P, Robevska G, Puisac B, Kusz-Zamelczyk K, Gimelli S, Spik A, Jaruzelska J, Warenik-Szymankiewicz A, Faradz S, Nef S, Pié J, Thomas P, Sinclair A, Wilhelm D. Bagheri-Fam S, et al. Among authors: gimelli s. PLoS One. 2020 Jan 7;15(1):e0227411. doi: 10.1371/journal.pone.0227411. eCollection 2020. PLoS One. 2020. PMID: 31910233 Free PMC article.

5

Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.

Makrythanasis P, Nelis M, Santoni FA, Guipponi M, Vannier A, Béna F, Gimelli S, Stathaki E, Temtamy S, Mégarbané A, Masri A, Aglan MS, Zaki MS, Bottani A, Fokstuen S, Gwanmesia L, Aliferis K, Bustamante Eduardo M, Stamoulis G, Psoni S, Kitsiou-Tzeli S, Fryssira H, Kanavakis E, Al-Allawi N, Sefiani A, Al Hait S, Elalaoui SC, Jalkh N, Al-Gazali L, Al-Jasmi F, Bouhamed HC, Abdalla E, Cooper DN, Hamamy H, Antonarakis SE. Makrythanasis P, et al. Among authors: gimelli s. Hum Mutat. 2014 Oct;35(10):1203-10. doi: 10.1002/humu.22617. Epub 2014 Aug 18. Hum Mutat. 2014. PMID: 25044680

6

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

7

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

8

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.

9

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

10

Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother.

Lambert N, Dauve C, Ranza E, Makrythanasis P, Santoni F, Sloan-Béna F, Gimelli S, Blouin JL, Guipponi M, Bottani A, Antonarakis SE, Kosel MM, Fluss J, Paoloni-Giacobino A. Lambert N, et al. Among authors: gimelli s. J Hum Genet. 2018 Jul;63(7):847-850. doi: 10.1038/s10038-018-0459-2. Epub 2018 May 1. J Hum Genet. 2018. PMID: 29717186

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