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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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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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Euchromatic variant 16p+. Implications in prenatal diagnosis

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

2006

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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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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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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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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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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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Fragile X syndrome with extra microchromosome

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

1994

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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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Autosomal recessive hydrocephalus due to aqueduct stenosis: report of a further family and implications for genetic counselling

The journal of maternal-fetal & neonatal medicine, 2002, Vol.12 (1), p.64-66

2002

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Holt-Oram syndrome: characterization of a novel mutation

Anales de pediatría (Barcelona, Spain : 2003), 2006-06, Vol.64 (6), p.578

2006

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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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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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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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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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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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Partial trisomy 20

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

1981

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

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

Euchromatic variant 16p+. Implications in prenatal diagnosis

Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism

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

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

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

Tetraploidy in a liveborn infant

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

Fragile X syndrome with extra microchromosome

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

Autosomal recessive hydrocephalus due to aqueduct stenosis: report of a further family and implications for genetic counselling

Holt-Oram syndrome: characterization of a novel mutation

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

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

An excess of chromosome 1 breakpoints in male infertility

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

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

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

Partial trisomy 20

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