Lista de obras - Elena Rossi - Dominio Público Uruguay

8.5 Mb deletion at distal 5p in a male ascertained for azoospermia.

artículo científico publicado en 2005

A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea

artículo científico publicado en 2008

A Revised Genome Assembly of the Region 5' to Canine SOX9 Includes the RevSex Orthologous Region.

artículo científico publicado en 2015

A novel zinc finger-containing RNA-binding protein conserved from fruitflies to humans

artículo científico publicado en 1997

A prenatal case of duplication with terminal deletion of 5p not identified by conventional cytogenetics

artículo científico publicado en 2008

Case of Myhre syndrome with autism and peculiar skin histological findings.

artículo científico publicado en 2001

Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome)

artículo científico publicado en 2008

Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature.

artículo científico publicado en 2006

Cloning and characterization of NEU2, a human gene homologous to rodent soluble sialidases.

artículo científico publicado en 1999

Colocalization of (TTAGGG)n telomeric sequences and ribosomal genes in Atlantic eels

scientific article published on 01 January 1995

Correlation between genomic alterations assessed by array comparative genomic hybridization, prognostically informative histologic subtype, stage, and patient survival in gastric cancer

artículo científico

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

artículo científico publicado en 2007

Cytogenetic abnormalities in PHA-stimulated lymphocytes from patients with Langerhans cell histocytosis. AIEOP-Istiocitosi Group.

artículo científico publicado en 2000

D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p).

artículo científico publicado en 1993

De novo reciprocal translocation t(5;6)(q13;q34) in cattle: cytogenetic and molecular characterization

scientific article published on 22 November 2013

De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s

artículo científico publicado en 2012

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion

artículo científico publicado en 2014

Definitive assignment of the growth hormone-releasing factor gene to 20q11.2.

artículo científico publicado en 1994

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation

scientific article published on 15 November 2007

Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31-->pter and monosomy 3p26.3-->pter in seven members

artículo científico publicado en 2008

Gene copy number variation in male breast cancer by aCGH.

artículo científico publicado en 2011

Gene copy number variation in male breast cancer by aCGH.

artículo científico publicado en 2010

Genomic analysis of cattle rob(1;29)

artículo científico publicado en 2012

High resolution X chromosome-specific array-CGH detects new CNVs in infertile males

artículo científico publicado en 2012

Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency

artículo científico publicado en 2000

Human FIGF: cloning, gene structure, and mapping to chromosome Xp22.1 between the PIGA and the GRPR genes

artículo científico publicado en 1998

Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching.

artículo científico publicado en 1996

Identification of miRNAs Potentially Involved in Bronchiolitis Obliterans Syndrome: A Computational Study.

artículo científico publicado en 2016

Identification of novel prognostic markers in relapsing localized resectable neuroblastoma.

scientific article published on 14 February 2011

Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter.

artículo científico publicado en 2001

Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q

scientific article published on 01 August 2000

Molecular cloning of cDNAs encoding human carnitine acetyltransferase and mapping of the corresponding gene to chromosome 9q34.1.

artículo científico publicado en 1994

New cryptic karyotypic differences between cattle (Bos taurus) and goat (Capra hircus).

artículo científico publicado en 2015

Reciprocal translocations: a trap for cytogenetists?

artículo científico publicado en 2005

Regional assignment of the gene coding for a human Graves' disease autoantigen to 10q21.3-q22.1.

scientific article published on 01 February 1993

Ring syndrome: still true?

scientific article published on 01 November 2008

Sox9 duplications are a relevant cause of Sry-negative XX sex reversal dogs.

artículo científico publicado en 2014

The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome

artículo científico publicado en 1998

Lista de obras de Elena Rossi

8.5 Mb deletion at distal 5p in a male ascertained for azoospermia.

A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea

A Revised Genome Assembly of the Region 5' to Canine SOX9 Includes the RevSex Orthologous Region.

A novel zinc finger-containing RNA-binding protein conserved from fruitflies to humans

A prenatal case of duplication with terminal deletion of 5p not identified by conventional cytogenetics

Case of Myhre syndrome with autism and peculiar skin histological findings.

Chromosomal microarray mapping suggests a role for BSX and Neurogranin in neurocognitive and behavioral defects in the 11q terminal deletion disorder (Jacobsen syndrome)

Chromosomal rearrangements in Xq and premature ovarian failure: mapping of 25 new cases and review of the literature.

Cloning and characterization of NEU2, a human gene homologous to rodent soluble sialidases.

Colocalization of (TTAGGG)n telomeric sequences and ribosomal genes in Atlantic eels

Correlation between genomic alterations assessed by array comparative genomic hybridization, prognostically informative histologic subtype, stage, and patient survival in gastric cancer

Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients.

Cytogenetic abnormalities in PHA-stimulated lymphocytes from patients with Langerhans cell histocytosis. AIEOP-Istiocitosi Group.

D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p).

De novo reciprocal translocation t(5;6)(q13;q34) in cattle: cytogenetic and molecular characterization

De novo unbalanced translocations in Prader-Willi and Angelman syndrome might be the reciprocal product of inv dup(15)s

Defining the phenotype associated with microduplication reciprocal to Sotos syndrome microdeletion

Definitive assignment of the growth hormone-releasing factor gene to 20q11.2.

Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation

Familial translocation t(3;10) (p26.3;p12.31) leading to trisomy 10p12.31-->pter and monosomy 3p26.3-->pter in seven members

Gene copy number variation in male breast cancer by aCGH.

Gene copy number variation in male breast cancer by aCGH.

Genomic analysis of cattle rob(1;29)

High resolution X chromosome-specific array-CGH detects new CNVs in infertile males

Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency

Human FIGF: cloning, gene structure, and mapping to chromosome Xp22.1 between the PIGA and the GRPR genes

Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching.

Identification of miRNAs Potentially Involved in Bronchiolitis Obliterans Syndrome: A Computational Study.

Identification of novel prognostic markers in relapsing localized resectable neuroblastoma.

Inv dup del (1)(pter-->q44::q44-->q42:) with the classical phenotype of trisomy 1q42-qter.

Inverted duplications are recurrent rearrangements always associated with a distal deletion: description of a new case involving 2q

Molecular cloning of cDNAs encoding human carnitine acetyltransferase and mapping of the corresponding gene to chromosome 9q34.1.

New cryptic karyotypic differences between cattle (Bos taurus) and goat (Capra hircus).

Reciprocal translocations: a trap for cytogenetists?

Regional assignment of the gene coding for a human Graves' disease autoantigen to 10q21.3-q22.1.

Ring syndrome: still true?

Sox9 duplications are a relevant cause of Sry-negative XX sex reversal dogs.

The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndrome