Paoloni-Giacobino A - Search Results

1

GnRH replacement rescues cognition in Down syndrome.

Manfredi-Lozano M, Leysen V, Adamo M, Paiva I, Rovera R, Pignat JM, Timzoura FE, Candlish M, Eddarkaoui S, Malone SA, Silva MSB, Trova S, Imbernon M, Decoster L, Cotellessa L, Tena-Sempere M, Claret M, Paoloni-Giacobino A, Plassard D, Paccou E, Vionnet N, Acierno J, Maceski AM, Lutti A, Pfrieger F, Rasika S, Santoni F, Boehm U, Ciofi P, Buée L, Haddjeri N, Boutillier AL, Kuhle J, Messina A, Draganski B, Giacobini P, Pitteloud N, Prevot V. Manfredi-Lozano M, et al. Among authors: paoloni giacobino a. Science. 2022 Sep 2;377(6610):eabq4515. doi: 10.1126/science.abq4515. Epub 2022 Sep 2. Science. 2022. PMID: 36048943 Free PMC article.

2

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. 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

3

Testicular Dysgenesis Syndrome and Long-Lasting Epigenetic Silencing of Mouse Sperm Genes Involved in the Reproductive System after Prenatal Exposure to DEHP.

Stenz L, Escoffier J, Rahban R, Nef S, Paoloni-Giacobino A. Stenz L, et al. PLoS One. 2017 Jan 13;12(1):e0170441. doi: 10.1371/journal.pone.0170441. eCollection 2017. PLoS One. 2017. PMID: 28085963 Free PMC article.

4

Cloning of a novel human neural cell adhesion molecule gene (NCAM2) that maps to chromosome region 21q21 and is potentially involved in Down syndrome.

Paoloni-Giacobino A, Chen H, Antonarakis SE. Paoloni-Giacobino A, et al. Genomics. 1997 Jul 1;43(1):43-51. doi: 10.1006/geno.1997.4782. Genomics. 1997. PMID: 9226371

5

Cloning of the TMPRSS2 gene, which encodes a novel serine protease with transmembrane, LDLRA, and SRCR domains and maps to 21q22.3.

Paoloni-Giacobino A, Chen H, Peitsch MC, Rossier C, Antonarakis SE. Paoloni-Giacobino A, et al. Genomics. 1997 Sep 15;44(3):309-20. doi: 10.1006/geno.1997.4845. Genomics. 1997. PMID: 9325052

6

Frequency of replication/transcription errors in (A)/(T) runs of human genes.

Paoloni-Giacobino A, Rossier C, Papasavvas MP, Antonarakis SE. Paoloni-Giacobino A, et al. Hum Genet. 2001 Jul;109(1):40-7. doi: 10.1007/s004390100541. Hum Genet. 2001. PMID: 11479734

7

Differential rates of frameshift alterations in four repeat sequences of hereditary nonpolyposis colorectal cancer tumors.

Paoloni-Giacobino A, Rey-Berthod C, Couturier A, Antonarakis SE, Hutter P. Paoloni-Giacobino A, et al. Hum Genet. 2002 Sep;111(3):284-9. doi: 10.1007/s00439-002-0789-0. Epub 2002 Aug 6. Hum Genet. 2002. PMID: 12215842

8

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. 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

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. J Child Sex Abus. 2010 May;19(3):337-44. doi: 10.1080/10538711003788991. J Child Sex Abus. 2010. PMID: 20509080

10

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.

Fokstuen S, Makrythanasis P, Hammar E, Guipponi M, Ranza E, Varvagiannis K, Santoni FA, Albarca-Aguilera M, Poleggi ME, Couchepin F, Brockmann C, Mauron A, Hurst SA, Moret C, Gehrig C, Vannier A, Bevillard J, Araud T, Gimelli S, Stathaki E, Paoloni-Giacobino A, Bottani A, Sloan-Béna F, Sizonenko LD, Mostafavi M, Hamamy H, Nouspikel T, Blouin JL, Antonarakis SE. Fokstuen S, et al. Hum Genomics. 2016 Jun 28;10(1):24. doi: 10.1186/s40246-016-0080-4. Hum Genomics. 2016. PMID: 27353043 Free PMC article. Review.

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