Paoloni-Giacobino A - Search Results

1

Refinement of the X-linked nonsyndromic high-grade myopia locus MYP1 on Xq28 and exclusion of 13 known positional candidate genes by direct sequencing.

Ratnamala U, Lyle R, Rawal R, Singh R, Vishnupriya S, Himabindu P, Rao V, Aggarwal S, Paluru P, Bartoloni L, Young TL, Paoloni-Giacobino A, Morris MA, Nath SK, Antonarakis SE, Radhakrishna U. Ratnamala U, et al. Invest Ophthalmol Vis Sci. 2011 Aug 29;52(9):6814-9. doi: 10.1167/iovs.10-6815. Invest Ophthalmol Vis Sci. 2011. PMID: 21357393 Free PMC article.

2

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

3

Prenatal supernumerary r(16) chromosome characterized by multiprobe FISH with normal pregnancy outcome.

Paoloni-Giacobino A, Morris MA, Dahoun SP. Paoloni-Giacobino A, et al. Prenat Diagn. 1998 Jul;18(7):751-2. Prenat Diagn. 1998. PMID: 9706660 No abstract available.

4

A proven case of materno-foetal transfusion determined by cytogenetic and DNA analysis.

Paoloni-Giacobino A, Dutoit MH, Morris MA, Dahoun SP. Paoloni-Giacobino A, et al. Clin Genet. 1999 Apr;55(4):256-8. doi: 10.1034/j.1399-0004.1999.550407.x. Clin Genet. 1999. PMID: 10361986

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

Familial t(6;21)(p21.1;p13) translocation associated with male-only sterility.

Paoloni-Giacobino A, Kern I, Rumpler Y, Djlelati R, Morris MA, Dahoun SP. Paoloni-Giacobino A, et al. Clin Genet. 2000 Oct;58(4):324-8. doi: 10.1034/j.1399-0004.2000.580411.x. Clin Genet. 2000. PMID: 11076058

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. 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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