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A robust second-generation genome-wide test for fetal aneuploidy based on shotgun sequencing cell-free DNA in maternal blood

Prenatal diagnosis, 2013-07, Vol.33 (7), p.707-710

2013

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Genetic services in Switzerland

European journal of human genetics : EJHG, 1997, Vol.5 Suppl 2 (Suppl. 2), p.174-177

Pescia, G

1997

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P16.15: First trimester prenatal diagnosis of fetal RhD status and gender by real‐time PCR in maternal serum

Ultrasound in obstetrics & gynecology, 2005-09, Vol.26 (4), p.471-471

2005

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Kerato-epithelin mutations in four 5q31-linked corneal dystrophies

Nature genetics, 1997-03, Vol.15 (3), p.247-251

1997

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Frequency and impact of autosomal dominant polycystic kidney disease in the Seychelles (Indian Ocean)

Nephrology, dialysis, transplantation, 1997-10, Vol.12 (10), p.2069-2074

1997

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Urology

Revue médicale suisse, 2010-01, Vol.6 (232), p.145

2010

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Evidence of Somatic and Germinal Mosaicism in Pseudo–Low-Penetrant Hereditary Retinoblastoma, by Constitutional and Single-Sperm Mutation Analysis

American journal of human genetics, 1998-12, Vol.63 (6), p.1903-1907

1998

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Prenatal Detection of Congenital Renal Malformations by Fetal Ultrasonographic Examination: An Analysis of 709,030 Births in 12 European Countries

European journal of medical genetics, 2005-04, Vol.48 (2), p.131-144

2005

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Further delineation of the facial 13q14 deletion syndrome in 13 retinoblastoma patients

Ophthalmic genetics, 2001, Vol.22 (1), p.11-18

2001

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Pregnancy-associated plasma protein A (PAPP-A): measurement by highly sensitive and specific enzyme immunoassay, importance of first-trimester serum determinations, and stability studies

Reproduction fertility and development, 1995, Vol.7 (6), p.1419

1995

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A sensitive enzyme immunoassay for pregnancy-associated plasma protein A (PAPP-A): a possible first trimester method of screening for Down syndrome and other trisomies

Archives of gynecology and obstetrics, 1995, Vol.256 (4), p.185-192

1995

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A sensitive enzyme immunoassay for pregnancy-associated plasma protein A (PAPP-A): a possible first trimester method of screening for Down syndrome and other trisomies

Archives of gynecology and obstetrics, 1995-09, Vol.256 (4), p.185-192

1995

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Delineation of a 1-cM region on distal 5q containing the locus for corneal dystrophies Groenouw type I and lattice type I and exclusion of the candidate genes SPARC and LOX

European journal of human genetics : EJHG, 1996, Vol.4 (4), p.214-218

1996

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Absence or reduction of total IgM in fetal blood as an indication for cytogenetic analysis?

Prenatal diagnosis, 1994-01, Vol.14 (1), p.75-76

1994

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Mid-term results with cultured epidermal autografts, allogenic skin transplants and cyclosporin A medication

Burns, 1994-02, Vol.20 (1), p.15-20

1994

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Putative non-Mendelian transmission of retinoblastoma in males: a phenotypic segregation analysis of 150 pedigrees

Human genetics, 1994-11, Vol.94 (5), p.484-490

1994

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Prognostic factors associated with loss of heterozygosity at the RB1 locus in retinoblastoma

Ophthalmic genetics, 1997, Vol.18 (1), p.7-12

1997

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A family study of renal agenesis

Journal of medical genetics, 1979-06, Vol.16 (3), p.176-188

1979

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A new case of Pfeiffer syndrome with mutation in FGFR2

Genetic counseling, 1997, Vol.8 (4), p.303

1997

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Maternally inherited Leigh syndrome

The Journal of pediatrics, 1993-03, Vol.122 (3), p.419-422

1993

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Approach to the abnormal child

Revue medicale de la Suisse romande, 2000-05, Vol.120 (5), p.425

2000

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Constitutional Karyotype in Retinoblastoma Case Report and Review of Literature

Ophthalmic genetics, 1989, Vol.10 (2), p.129-149

1989

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Chorionic villi sampling: the Lausanne Study

Contributions to gynecology and obstetrics, 1986, Vol.15, p.11

1986

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Chorionic villi sampling: point of view of the medical geneticist

Contributions to gynecology and obstetrics, 1986, Vol.15, p.54

1986

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Genetics. Observations in the guise of an editorial

Revue medicale de la Suisse romande, 1993-04, Vol.113 (4), p.261

Pescia, G

1993

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A robust second-generation genome-wide test for fetal aneuploidy based on shotgun sequencing cell-free DNA in maternal blood

Genetic services in Switzerland

P16.15: First trimester prenatal diagnosis of fetal RhD status and gender by real‐time PCR in maternal serum

Kerato-epithelin mutations in four 5q31-linked corneal dystrophies

Frequency and impact of autosomal dominant polycystic kidney disease in the Seychelles (Indian Ocean)

Urology

Evidence of Somatic and Germinal Mosaicism in Pseudo–Low-Penetrant Hereditary Retinoblastoma, by Constitutional and Single-Sperm Mutation Analysis

Prenatal Detection of Congenital Renal Malformations by Fetal Ultrasonographic Examination: An Analysis of 709,030 Births in 12 European Countries

Further delineation of the facial 13q14 deletion syndrome in 13 retinoblastoma patients

Pregnancy-associated plasma protein A (PAPP-A): measurement by highly sensitive and specific enzyme immunoassay, importance of first-trimester serum determinations, and stability studies

A sensitive enzyme immunoassay for pregnancy-associated plasma protein A (PAPP-A): a possible first trimester method of screening for Down syndrome and other trisomies

A sensitive enzyme immunoassay for pregnancy-associated plasma protein A (PAPP-A): a possible first trimester method of screening for Down syndrome and other trisomies

Delineation of a 1-cM region on distal 5q containing the locus for corneal dystrophies Groenouw type I and lattice type I and exclusion of the candidate genes SPARC and LOX

Absence or reduction of total IgM in fetal blood as an indication for cytogenetic analysis?

Mid-term results with cultured epidermal autografts, allogenic skin transplants and cyclosporin A medication

Putative non-Mendelian transmission of retinoblastoma in males: a phenotypic segregation analysis of 150 pedigrees

Prognostic factors associated with loss of heterozygosity at the RB1 locus in retinoblastoma

A family study of renal agenesis

A new case of Pfeiffer syndrome with mutation in FGFR2

Maternally inherited Leigh syndrome

Approach to the abnormal child

Constitutional Karyotype in Retinoblastoma Case Report and Review of Literature

Chorionic villi sampling: the Lausanne Study

Chorionic villi sampling: point of view of the medical geneticist

Genetics. Observations in the guise of an editorial

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