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Tetrasomy 8p: Discordance of amniotic fluid and blood karyotypes

American journal of medical genetics, 2003-05, Vol.118A (4), p.353-357

2003

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Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR

Journal of medical genetics, 1999-09, Vol.36 (9), p.694-699

1999

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Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes

Journal of medical genetics, 1999-04, Vol.36 (4), p.271-278

1999

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Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome

Clinical genetics, 2005-10, Vol.68 (4), p.373-378

2005

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Identification of human candidate genes for male infertility by digital differential display

Molecular human reproduction, 2001-01, Vol.7 (1), p.11-20

2001

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MLPA vs multiprobe FISH: comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation

Clinical genetics, 2006-03, Vol.69 (3), p.228-233

2006

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Tetraploidy in a liveborn infant

Journal of medical genetics, 1990-12, Vol.27 (12), p.782-783

1990

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De novo t(5p;21q) in a patient previously diagnosed as monosomy 21

Clinical genetics, 1993-02, Vol.43 (2), p.94-97

1993

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Euchromatic variant 16p+. Implications in prenatal diagnosis

Prenatal diagnosis, 2006-06, Vol.26 (6), p.535-538

2006

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Fragile X syndrome with extra microchromosome

Clinical genetics, 1994-04, Vol.45 (4), p.186-189

1994

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Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism

European journal of human genetics : EJHG, 1998-09, Vol.6 (5), p.432-438

1998

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Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child

American journal of medical genetics, 2000-12, Vol.95 (4), p.336-338

2000

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Characterization of a Germline Mosaicism in Families with Lowe Syndrome, and Identification of Seven Novel Mutations in the OCRL1 Gene

American journal of human genetics, 1999-07, Vol.65 (1), p.68-76

1999

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A malformed child with a recombinant chromosome 7, rec(7) dup p, derived from a maternal pericentric inversion inv(7)(p15q36)

Journal of medical genetics, 1991-02, Vol.28 (2), p.126-127

1991

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Short Report: MLPA vs multiprobe FISH: comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation

Clinical genetics, 2006-03, Vol.69 (3), p.228-233

2006

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A prenatally diagnosed patient with full monosomy 21: Ultrasound, cytogenetic, clinical, molecular, and necropsy findings

American journal of medical genetics, 2004-05, Vol.127A (1), p.69-73

2004

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An excess of chromosome 1 breakpoints in male infertility

European journal of human genetics : EJHG, 2004-12, Vol.12 (12), p.993-1000

2004

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Balanced reciprocal translocation (X;20) limited to Wilms' tumor in a Wiedemann-Beckwith syndrome

Cancer genetics and cytogenetics, 1990-03, Vol.45 (1), p.35-39

1990

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An azoospermic male with a Y/autosome translocation

Human genetics, 1979-01, Vol.46 (2), p.155-158

1979

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Partial trisomy 14q

Human genetics, 1979-01, Vol.46 (2), p.243-247

1979

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Complete trisomy 9. Two additional cases

Annales de génétique, 1985, Vol.28 (1), p.63

1985

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Partial trisomy 20

Annales de génétique, 1981, Vol.24 (1), p.54

1981

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Trisomy 20p from maternal translocation and anencephaly. Case report and genetic review

Annales de génétique, 1989, Vol.32 (4), p.247

1989

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Short Report: Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome

Clinical genetics, 2005-10, Vol.68 (4), p.373

2005

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Long non-coding RNA regulation of gene expression during differentiation

Pflügers Archiv, 2016-06, Vol.468 (6), p.971-981

Lopez-Pajares, Vanessa

2016

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Tetrasomy 8p: Discordance of amniotic fluid and blood karyotypes

Molecular characterisation of partial chromosome 21 aneuploidies by fluorescent PCR

Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes

Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome

Identification of human candidate genes for male infertility by digital differential display

MLPA vs multiprobe FISH: comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation

Tetraploidy in a liveborn infant

De novo t(5p;21q) in a patient previously diagnosed as monosomy 21

Euchromatic variant 16p+. Implications in prenatal diagnosis

Fragile X syndrome with extra microchromosome

Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism

Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child

Characterization of a Germline Mosaicism in Families with Lowe Syndrome, and Identification of Seven Novel Mutations in the OCRL1 Gene

A malformed child with a recombinant chromosome 7, rec(7) dup p, derived from a maternal pericentric inversion inv(7)(p15q36)

Short Report: MLPA vs multiprobe FISH: comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation

A prenatally diagnosed patient with full monosomy 21: Ultrasound, cytogenetic, clinical, molecular, and necropsy findings

An excess of chromosome 1 breakpoints in male infertility

Balanced reciprocal translocation (X;20) limited to Wilms' tumor in a Wiedemann-Beckwith syndrome

An azoospermic male with a Y/autosome translocation

Partial trisomy 14q

Complete trisomy 9. Two additional cases

Partial trisomy 20

Trisomy 20p from maternal translocation and anencephaly. Case report and genetic review

Short Report: Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome

Long non-coding RNA regulation of gene expression during differentiation

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