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Evidence for a Familial Pregnancy-Induced Hypertension Locus in the eNOS-Gene Region

American journal of human genetics, 1997-08, Vol.61 (2), p.354-362

1997

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Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies

Human mutation, 1997, Vol.10 (6), p.415-423

1997

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Identification of a novel S0D1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of lle113Thr in three others

Human molecular genetics, 1994-04, Vol.3 (4), p.649-650

1994

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Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations

Human mutation, 1997, Vol.10 (4), p.280-289

1997

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Heterozygotes for the ΔF508 cystic fibrosis allele are not protected against bronchial asthma

Nature medicine, 1995-10, Vol.1 (10), p.978-979

1995

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Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis

Neurology, 1999-06, Vol.52 (9), p.1899-1899

1999

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Prenatal Diagnosis of Neural Tube Defects

XI International Congress of Clinical Chemistry, 2019, p.623-632

2019

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Marfan Database (third edition): new mutations and new routines for the software

Nucleic acids research, 1998-01, Vol.26 (1), p.229-233

1998

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Prenatal screening for cystic fibrosis: 5 years' experience reviewed

The Lancet (British edition), 1996-01, Vol.347 (8995), p.148-150

Brock, D.J.H

1996

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Psychological impact of population-based carrier testing for cystic fibrosis: 3-year follow-up

The Lancet (British edition), 1996-05, Vol.347 (9013), p.1443-1446

1996

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The facts on cystic fibrosis testing

Nature (London), 1986-01, Vol.319 (6050), p.184-184

1986

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Serum concentrations of a granulocyte-derived calcium-binding protein in cystic fibrosis patients and heterozygotes

Clinica chimica acta, 1987-11, Vol.170 (1), p.45-55

1987

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Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients

Journal of medical genetics, 1995-04, Vol.32 (4), p.290-292

1995

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Basic human genetics

Trends in genetics, 1994-06, Vol.10 (6), p.215

Brock, David J.H.

1994

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A clue to the basic defect in cystic fibrosis from cloning the CF antigen gene

Nature (London), 1987-04, Vol.326 (6113), p.614-617

1987

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Population screening for cystic fibrosis

Current opinion in pediatrics, 1996-12, Vol.8 (6), p.635-638

Brock, D J

1996

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Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation

Human molecular genetics, 1992-04, Vol.1 (1), p.11-17

1992

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A study of the Huntington's disease associated trinucleotide repeat in the Scottish population

Journal of medical genetics, 1993-12, Vol.30 (12), p.1003-1007

1993

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The incidence of cystic fibrosis in Scotland calculated from heterozygote frequencies

Clinical genetics, 1998-01, Vol.53 (1), p.47-49

1998

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Measurement of placental alkaline phosphatase in maternal plasma as an indicator of subsequent low birthweight outcome

BJOG : an international journal of obstetrics and gynaecology, 1988-01, Vol.95 (1), p.79-83

1988

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A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly

Molecular and cellular probes, 1994-08, Vol.8 (4), p.325-327

1994

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Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus

American journal of human genetics, 1992-08, Vol.51 (2), p.245-250

1992

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An exclusion map for pre-eclampsia : assuming autosomal recessive inheritance

American journal of human genetics, 1992-04, Vol.50 (4), p.749-757

1992

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Messung der plazentaren alkalischen Phosphatase im mütterlichen Plasma als Indikator für ein niedriges kindliches Geburtsgewicht

Gynäkologisch-geburtshilfliche Rundschau, 1988-04, Vol.28 (4), p.232-233

1988

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Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient

Molecular and cellular probes, 1994-08, Vol.8 (4), p.329-330

1994

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Evidence for a Familial Pregnancy-Induced Hypertension Locus in the eNOS-Gene Region

Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies

Identification of a novel S0D1 mutation in an apparently sporadic amyotrophic lateral sclerosis patient and the detection of lle113Thr in three others

Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations

Heterozygotes for the ΔF508 cystic fibrosis allele are not protected against bronchial asthma

Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis

Prenatal Diagnosis of Neural Tube Defects

Marfan Database (third edition): new mutations and new routines for the software

Prenatal screening for cystic fibrosis: 5 years' experience reviewed

Psychological impact of population-based carrier testing for cystic fibrosis: 3-year follow-up

The facts on cystic fibrosis testing

Serum concentrations of a granulocyte-derived calcium-binding protein in cystic fibrosis patients and heterozygotes

Superoxide dismutase mutations in an unselected cohort of Scottish amyotrophic lateral sclerosis patients

Basic human genetics

A clue to the basic defect in cystic fibrosis from cloning the CF antigen gene

Population screening for cystic fibrosis

Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation

A study of the Huntington's disease associated trinucleotide repeat in the Scottish population

The incidence of cystic fibrosis in Scotland calculated from heterozygote frequencies

Measurement of placental alkaline phosphatase in maternal plasma as an indicator of subsequent low birthweight outcome

A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly

Cystic fibrosis patients bearing both the common missense mutation Gly----Asp at codon 551 and the delta F508 mutation are clinically indistinguishable from delta F508 homozygotes, except for decreased risk of meconium ileus

An exclusion map for pre-eclampsia : assuming autosomal recessive inheritance

Messung der plazentaren alkalischen Phosphatase im mütterlichen Plasma als Indikator für ein niedriges kindliches Geburtsgewicht

Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient

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