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Prenatal array comparative genomic hybridization in a well‐defined cohort of high‐risk pregnancies. A 3‐year implementation results in a public tertiary academic referral hospital

Prenatal diagnosis, 2021-03, Vol.41 (4), p.422-433

2021

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Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype

European journal of paediatric neurology, 2022-03, Vol.37, p.1-7

2022

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Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland

European journal of human genetics : EJHG, 1999-04, Vol.7 (3), p.368-376

1999

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A Locus for Autosomal Dominant Keratoconus: Linkage to 16q22.3-q23.1 in Finnish Families

Investigative ophthalmology & visual science, 2002-10, Vol.43 (10), p.3160-3164

2002

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A Novel CACNA1F Gene Mutation Causes Aland Island Eye Disease

Investigative ophthalmology & visual science, 2007-06, Vol.48 (6), p.2498-2502

2007

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X-Linked Cone-Rod Dystrophy (Locus COD1): Identification of Mutations in RPGR Exon ORF15

American journal of human genetics, 2002-04, Vol.70 (4), p.1049-1053

2002

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Genetic variation inschlafengenes in a patient with a recapitulation of the murineElektraphenotype

Journal of allergy and clinical immunology, 2014-05, Vol.133 (5), p.1462

2014

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Genetic background of HSH in three Polish families and a patient with an X;9 translocation

European journal of human genetics : EJHG, 2006-01, Vol.14 (1), p.55-62

2006

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Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina

European journal of human genetics : EJHG, 2002-08, Vol.10 (8), p.449-456

2002

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Functional Implications of the Spectrum of Mutations Found in 234 Cases With X-linked Juvenile Retinoschisis (XLRS)

Human molecular genetics, 1998-07, Vol.7 (7), p.1185-1192

The Retinoschisis Consortium

1998

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Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families

Human mutation, 2000-10, Vol.16 (4), p.307-314

2000

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Interstitial 1q25.3‐q31.3 deletion in a boy with mild manifestations

American journal of medical genetics, 2003-12, Vol.123A (3), p.290-295

2003

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Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets

Human mutation, 2000-04, Vol.15 (4), p.383-384

2000

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Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene

British journal of ophthalmology, 2005-07, Vol.89 (7), p.820-824

2005

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A Novel CACNA1F Gene Mutation Causes Åland Island Eye Disease

Investigative ophthalmology & visual science, 2007-06, Vol.48 (6), p.2498

2007

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Linkage disequilibrium and physical mapping of X-linked juvenile retinoschisis

American journal of human genetics, 1997-05, Vol.60 (5), p.1139-1149

1997

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A 6-Mb YAC contig in Xp22.1–p22.2 spanning the DXS69E, XE59, GLRA2, PIGA, GRPR, CALB3, and PHKA2 genes

Genomics (San Diego, Calif.), 1995-02, Vol.25 (3), p.691-700

1995

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Skewed secondary sex ratio in the offspring of carriers of the 214G > A mutation of the RS1 gene

Annals of human genetics, 1999-11, Vol.63, p.521-533

1999

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The chromosomal organization of the human endogenous retrovirus-like sequence HERV-H: clustering of the HERV-H sequences in a 300-kb region close to the GRPR locus on the X chromosome

DNA research, 1996, Vol.3 (6), p.425-429

1996

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Refined localization of the gene causing X-linked juvenile retinoschisis

Genomics (San Diego, Calif.), 1991-03, Vol.9 (3), p.505-510

1991

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Chromosomal localization of ZFX—A human gene that escapes X inactivation—and its murine homologs

Genomics (San Diego, Calif.), 1990-05, Vol.7 (1), p.37-46

1990

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Genetic mapping of 12 marker loci in the Xp22.3-p21.2 region

Human genetics, 1991-04, Vol.86 (6), p.599-603

1991

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Gene mapping of juvenile retinoschisis and Aland Island eye disease on the human X chromosome

Alitalo, Tiina Sisko

1990

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Molecular characterization of a Y;15 translocation segregating in a family

Human genetics, 1988-05, Vol.79 (1), p.29-35

1988

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Genetic variation in schlafen genes in a patient with a recapitulation of the murine Elektra phenotype

Prenatal array comparative genomic hybridization in a well‐defined cohort of high‐risk pregnancies. A 3‐year implementation results in a public tertiary academic referral hospital

Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype

Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland

A Locus for Autosomal Dominant Keratoconus: Linkage to 16q22.3-q23.1 in Finnish Families

A Novel CACNA1F Gene Mutation Causes Aland Island Eye Disease

X-Linked Cone-Rod Dystrophy (Locus COD1): Identification of Mutations in RPGR Exon ORF15

Genetic variation inschlafengenes in a patient with a recapitulation of the murineElektraphenotype

Genetic background of HSH in three Polish families and a patient with an X;9 translocation

Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina

Functional Implications of the Spectrum of Mutations Found in 234 Cases With X-linked Juvenile Retinoschisis (XLRS)

Characterization of two unusual RS1 gene deletions segregating in Danish retinoschisis families

Interstitial 1q25.3‐q31.3 deletion in a boy with mild manifestations

Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets

Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene

A Novel CACNA1F Gene Mutation Causes Åland Island Eye Disease

Linkage disequilibrium and physical mapping of X-linked juvenile retinoschisis

A 6-Mb YAC contig in Xp22.1–p22.2 spanning the DXS69E, XE59, GLRA2, PIGA, GRPR, CALB3, and PHKA2 genes

Skewed secondary sex ratio in the offspring of carriers of the 214G > A mutation of the RS1 gene

The chromosomal organization of the human endogenous retrovirus-like sequence HERV-H: clustering of the HERV-H sequences in a 300-kb region close to the GRPR locus on the X chromosome

Refined localization of the gene causing X-linked juvenile retinoschisis

Chromosomal localization of ZFX—A human gene that escapes X inactivation—and its murine homologs

Genetic mapping of 12 marker loci in the Xp22.3-p21.2 region

Gene mapping of juvenile retinoschisis and Aland Island eye disease on the human X chromosome

Molecular characterization of a Y;15 translocation segregating in a family

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