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Molecular basis of choroideremia (CHM): Mutations involving the rab escort protein-1 (REP-1) gene

Human mutation, 1997, Vol.9 (2), p.110-117

1997

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Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients

Human molecular genetics, 1994-07, Vol.3 (7), p.1047-1051

1994

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Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing

American journal of human genetics, 1992-06, Vol.50 (6), p.1195-1202

1992

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Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases

American journal of human genetics, 1990-10, Vol.47 (4), p.622-628

1990

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C-band polymorphisms of chromosome 9: quantification by Ce-bands

Human genetics, 1987-09, Vol.77 (1), p.1-5

1987

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Deletion of the DXS165 locus in patients with classical Choroideremia

Clinical genetics, 1987-12, Vol.32 (6), p.421-423

1987

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Trisomy 20 mosaicism

Prenatal diagnosis, 1984-11, Vol.4 (6), p.411-419

1984

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Abnormal platelet function in Kallmann syndrome

The Lancet (British edition), 1986-07, Vol.2 (8499), p.166-166

1986

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Acceptability of prenatal diagnosis for retinitis pigmentosa

The Lancet (British edition), 1986-12, Vol.2 (8520), p.1394-1395

1986

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False negative cytogenetic result in direct preparations after CVS

Prenatal diagnosis, 1988-10, Vol.8 (8), p.633-633

1988

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Inv dup (15): Prenatal diagnosis and postnatal follow-up

Prenatal diagnosis, 1986-07, Vol.6 (4), p.303-306

1986

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Cloning of the breakpoints of a deletion associated with choroideremia

Human genetics, 1990-11, Vol.86 (1), p.61-64

1990

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Elevated amniotic alpha fetoprotein in a fetus with Turner's syndrome due to puncture of a cystic hygroma

American journal of obstetrics and gynecology, 1979-03, Vol.133 (5), p.584-585

1979

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Fetal cells in the maternal circulation: detection by direct AFP-immunofluorescence

Human genetics, 1982-01, Vol.62 (3), p.221-224

1982

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Choroideremia-locus maps between DXS3 and DXS11 on Xq

Human genetics, 1986-06, Vol.73 (2), p.123-126

1986

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Amniotic fluid acetylcholinesterase as a marker in prenatal diagnosis of esophageal atresia

American journal of obstetrics and gynecology, 1983-03, Vol.145 (5), p.641-641

1983

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Quantification of C-band polymorphisms by centromeric elevations (Ce-bands)

Human genetics, 1981-01, Vol.58 (3), p.302-305

1981

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A sex cord stromal tumour in a woman with XO/XX/XXX-mosaicism

Archives of gynecology and obstetrics, 1988-01, Vol.243 (2), p.115-118

1988

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Maternal cell contamination in chorionic villi cultures - Exclusion by chromosomal fluorescence polymorphisms

Clinical genetics, 1985-09, Vol.28 (3), p.262-263

1985

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Trisomy 20q due to maternal t(16;20) translocation First case

Clinical genetics, 1979-02, Vol.15 (2), p.167-170

1979

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The correspondence between quinacrine banding patterns and sites of secondary constrictions in human chromosomes

Human genetics, 1972-01, Vol.15 (3), p.236-241

Pawlowitzki, I H

1972

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Pyoderma gangraenosum associated with Philadelphia-chromosome-negative chronic myeloid leukaemia (author's transl)

Dermatologica, 1977, Vol.154 (6), p.360

1977

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Preparing chromosomes for scanning electron microscopy without enzymic digestion

Journal of microscopy (Oxford), 1971-04, Vol.93 (2), p.119-122

1971

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A case of testicular feminization with the karyotype 47, XXY (author's transl)

Human genetics, 1976-01, Vol.31 (1), p.59-65

1976

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Estimating frequency of Kallmann syndrome among hypogonadic and among anosmic patients

American journal of medical genetics, 1987-02, Vol.26 (2), p.473-479

1987

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Molecular basis of choroideremia (CHM): Mutations involving the rab escort protein-1 (REP-1) gene

Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients

Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing

Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases

C-band polymorphisms of chromosome 9: quantification by Ce-bands

Deletion of the DXS165 locus in patients with classical Choroideremia

Trisomy 20 mosaicism

Abnormal platelet function in Kallmann syndrome

Acceptability of prenatal diagnosis for retinitis pigmentosa

False negative cytogenetic result in direct preparations after CVS

Inv dup (15): Prenatal diagnosis and postnatal follow-up

Cloning of the breakpoints of a deletion associated with choroideremia

Elevated amniotic alpha fetoprotein in a fetus with Turner's syndrome due to puncture of a cystic hygroma

Fetal cells in the maternal circulation: detection by direct AFP-immunofluorescence

Choroideremia-locus maps between DXS3 and DXS11 on Xq

Amniotic fluid acetylcholinesterase as a marker in prenatal diagnosis of esophageal atresia

Quantification of C-band polymorphisms by centromeric elevations (Ce-bands)

A sex cord stromal tumour in a woman with XO/XX/XXX-mosaicism

Maternal cell contamination in chorionic villi cultures - Exclusion by chromosomal fluorescence polymorphisms

Trisomy 20q due to maternal t(16;20) translocation First case

The correspondence between quinacrine banding patterns and sites of secondary constrictions in human chromosomes

Pyoderma gangraenosum associated with Philadelphia-chromosome-negative chronic myeloid leukaemia (author's transl)

Preparing chromosomes for scanning electron microscopy without enzymic digestion

A case of testicular feminization with the karyotype 47, XXY (author's transl)

Estimating frequency of Kallmann syndrome among hypogonadic and among anosmic patients

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