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FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited

American journal of medical genetics. Part A, 2006-05, Vol.140A (10), p.1047-1058

2006

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Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome

Human genetics, 2001-12, Vol.109 (6), p.638-645

2001

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A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome

American journal of human genetics, 1997-03, Vol.60 (3), p.555-564

1997

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The clinical geneticist and the “new genetics”

Medical journal of Australia, 2003-05, Vol.178 (9), p.458-462

Haan, Eric A

2003

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“Folate before pregnancy”: the impact on women and health professionals of a population‐based health promotion campaign in South Australia

Medical journal of Australia, 2001-06, Vol.174 (12), p.631-636

2001

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The impact of maternal serum screening on the birth prevalence of Down's syndrome and the use of amniocentesis and chorionic villus sampling in South Australia

BJOG : an international journal of obstetrics and gynaecology, 2000-12, Vol.107 (12), p.1453-1459

2000

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A familial cryptic subtelomeric deletion 12p with variable phenotypic effect

Clinical genetics, 2002-03, Vol.61 (3), p.198-201

2002

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PEHO and PEHO-like syndromes: Report of five Australian cases

American journal of medical genetics, 2003-09, Vol.122A (1), p.6-12

2003

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Karyotypes found in the population declared at increased risk of Down syndrome following maternal serum screening

Prenatal diagnosis, 2001-07, Vol.21 (7), p.553-557

2001

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Effect of parity, gravidity, previous miscarriage, and age on risk of Down's syndrome: population based study

BMJ, 1998-10, Vol.317 (7163), p.923-924

International edition, 1998

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Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer—Giedion syndrome

Human molecular genetics, 1995-01, Vol.4 (1), p.31-36

1995

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FMR2 Expression in Families with Fraxe Mental Retardation

Human molecular genetics, 1997-03, Vol.6 (3), p.435-441

1997

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Analysis of five Duchenne muscular dystrophy exons and gender determination using conventional duplex polymerase chain reaction on single cells

Molecular human reproduction, 1999-11, Vol.5 (11), p.1089-1094

1999

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Universal periconceptional folate supplementation: chasing a dream?

Medical journal of Australia, 2000-08, Vol.173 (4), p.223-223

2000

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Mutation detection in FGFR2 craniosynostosis syndromes

Human genetics, 1997-02, Vol.99 (2), p.251-255

1997

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The OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects): recurrence in sibs

Journal of medical genetics, 1992-10, Vol.29 (10), p.730-732

1992

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The impact of rubella immunisation on the incidence of rubella, congenital rubella syndrome and rubella‐related terminations of pregnancy in South Australia

BJOG : an international journal of obstetrics and gynaecology, 1998-09, Vol.105 (9), p.998-1004

1998

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Origins of accessory small ring marker chromosomes derived from chromosome 1

Journal of medical genetics, 1999-11, Vol.36 (11), p.847-853

1999

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FRAXE and mental retardation

Journal of medical genetics, 1995-03, Vol.32 (3), p.162-169

1995

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Localization of craniosynostosis Adelaide type to 4p16

Human molecular genetics, 1995-04, Vol.4 (4), p.681-683

1995

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Hereditary unstable DNA: a new explanation for some old genetic questions?

The Lancet (British edition), 1991-08, Vol.338 (8762), p.289-292

1991

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The sensitivity of ultrasound and serum alpha‐fetoprotein in population‐based antenatal screening for neural tube defects, South Australia 1986–1991

BJOG : an international journal of obstetrics and gynaecology, 1995-05, Vol.102 (5), p.370-376

1995

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Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I

American journal of human genetics, 1992-03, Vol.50 (3), p.576-583

1992

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Explanation for exclusive maternal origin for congenital form of myotonic dystrophy

The Lancet (British edition), 1993-01, Vol.341 (8839), p.236-237

1993

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Homozygotes for FRA16B are normal

Chromosome research, 1999-01, Vol.7 (7), p.553-556

1999

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FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited

Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome

A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome

The clinical geneticist and the “new genetics”

“Folate before pregnancy”: the impact on women and health professionals of a population‐based health promotion campaign in South Australia

The impact of maternal serum screening on the birth prevalence of Down's syndrome and the use of amniocentesis and chorionic villus sampling in South Australia

A familial cryptic subtelomeric deletion 12p with variable phenotypic effect

PEHO and PEHO-like syndromes: Report of five Australian cases

Karyotypes found in the population declared at increased risk of Down syndrome following maternal serum screening

Effect of parity, gravidity, previous miscarriage, and age on risk of Down's syndrome: population based study

Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer—Giedion syndrome

FMR2 Expression in Families with Fraxe Mental Retardation

Analysis of five Duchenne muscular dystrophy exons and gender determination using conventional duplex polymerase chain reaction on single cells

Universal periconceptional folate supplementation: chasing a dream?

Mutation detection in FGFR2 craniosynostosis syndromes

The OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects): recurrence in sibs

The impact of rubella immunisation on the incidence of rubella, congenital rubella syndrome and rubella‐related terminations of pregnancy in South Australia

Origins of accessory small ring marker chromosomes derived from chromosome 1

FRAXE and mental retardation

Localization of craniosynostosis Adelaide type to 4p16

Hereditary unstable DNA: a new explanation for some old genetic questions?

The sensitivity of ultrasound and serum alpha‐fetoprotein in population‐based antenatal screening for neural tube defects, South Australia 1986–1991

Assignment of a gene (NEMI) for autosomal dominant nemaline myopathy to chromosome I

Explanation for exclusive maternal origin for congenital form of myotonic dystrophy

Homozygotes for FRA16B are normal

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