|
| 19085907 | Classic and atypical fibrodysplasia ossificans progressiva (FOP) phenotypes are caused by mutations in the bone morphogenetic protein (BMP) type I receptor ACVR1. | Hum Mutat | 2009 |
| 18450872 | Early diagnosis of fibrodysplasia ossificans progressiva. | Pediatrics | 2008 |
| 18990993 | Response to "Mutations of the NOGGIN and of the activin A type I receptor genes in fibrodysplasia ossificans progressiva (FOP)" by Lucotte et al. | Genet Couns | 2008 |
| 17540803 | Circulating angiogenic factors in early pregnancy and the risk of preeclampsia, intrauterine growth restriction, spontaneous preterm birth, and stillbirth. | Obstet Gynecol | 2007 |
| 16118347 | Confirmation of CHD7 as a cause of CHARGE association identified by mapping a balanced chromosome translocation in affected monozygotic twins. | J Med Genet | 2006 |
| 17298217 | Demystification of Chester porphyria: a nonsense mutation in the Porphobilinogen Deaminase gene. | Physiol Res | 2006 |
| 16642017 | A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva. | Nat Genet | 2006 |
| 15503268 | First-trimester combined ultrasound and biochemical screening for Down syndrome in routine clinical practice. | Prenat Diagn | 2004 |
| 15536112 | First-trimester placentation and the risk of antepartum stillbirth. | JAMA | 2004 |
| 14987913 | Relationship of the platelet glycoprotein PlA and fibrinogen T/G+1689 polymorphisms with peripheral arterial disease and ischaemic heart disease. | Thromb Res | 2003 |
| 11932314 | Early pregnancy levels of pregnancy-associated plasma protein a and the risk of intrauterine growth restriction, premature birth, preeclampsia, and stillbirth. | J Clin Endocrinol Metab | 2002 |
| 12087395 | Early-pregnancy origins of low birth weight. | Nature | 2002 |
| 12118646 | Combined ultrasound and biochemical screening for Down's syndrome in the first trimester: a Scottish multicentre study. | BJOG | 2002 |
| 11920904 | Maternal smoking: age distribution, levels of alpha-fetoprotein and human chorionic gonadotrophin, and effect on detection of Down syndrome pregnancies in second-trimester screening. | Prenat Diagn | 2002 |
| 11170828 | Placental and maternal serum inhibin-A and activin-A levels in Down's syndrome pregnancies. | Placenta | 2001 |
| 10631143 | Fibrodysplasia ossificans progressiva, a heritable disorder of severe heterotopic ossification, maps to human chromosome 4q27-31. | Am J Hum Genet | 2000 |
| 11076054 | Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP). | Clin Genet | 2000 |
| 10736251 | Placental synthesis of oestriol in Down's syndrome pregnancies. | Placenta | 2000 |
| 10781649 | Methylene tetrahydrofolate reductase (MTHFR) and nitric oxide synthase (ecNOS) genes and risks of peripheral arterial disease and coronary heart disease: Edinburgh Artery Study. | Atherosclerosis | 2000 |
| 10775568 | Glomerular hyperfiltration, high renin, and low- extracellular volume in high blood pressure. | Hypertension | 2000 |
| 10198615 | Detection of t(12;21) in childhood acute lymphoblastic leukemia by fluorescence in situ hybridization. | Cancer Genet Cytogenet | 1999 |
| 10416971 | Two years' prospective experience using fluorescence in situ hybridization on uncultured amniotic fluid cells for rapid prenatal diagnosis of common chromosomal aneuploidies. | Prenat Diagn | 1999 |
| 10451512 | Second-trimester pregnancy associated plasma protein-A levels are reduced in Cornelia de Lange syndrome pregnancies. | Prenat Diagn | 1999 |
| 10405095 | Neuroticism and polymorphisms in the serotonin transporter gene. | Psychol Med | 1999 |
| 10235438 | Fibrinogen, factor VII and PAI-1 genotypes and the risk of coronary and peripheral atherosclerosis: Edinburgh Artery Study. | Thromb Haemost | 1999 |
| 10441661 | Phenotypic and molecular heterogeneity in fibrodysplasia ossificans progressiva. | Calcif Tissue Int | 1999 |
| 10086446 | Genetic and environmental influences in the development of multiple primary melanoma. | Arch Dermatol | 1999 |
| 9762612 | A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the alpha-fucosidase gene. | J Inherit Metab Dis | 1998 |
| 9463797 | Identification of two novel mutations in the hydroxymethylbilane synthase gene in three patients from two unrelated families with acute intermittent porphyria. | Hum Hered | 1998 |
| 9610799 | Prediction of liability to orofacial clefting using genetic and craniofacial data from parents. | J Med Genet | 1998 |
| 9541108 | A new strategy for cryptic telomeric translocation screening in patients with idiopathic mental retardation. | J Med Genet | 1998 |
| 9633040 | Acute intermittent porphyria: alternative splicing of hydroxymethylbilane synthase mRNA excludes exons 3 and 12. | Mol Cell Probes | 1998 |
| 9674650 | Human alpha-adducin gene, blood pressure, and sodium metabolism. | Hypertension | 1998 |
| 9699728 | CDKN2A germline mutations in U.K. patients with familial melanoma and multiple primary melanomas. | J Invest Dermatol | 1998 |
| 9783708 | Mosaic supernumerary ring chromosome 19 identified by comparative genomic hybridisation. | J Med Genet | 1998 |
| 9863595 | 1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis. | J Med Genet | 1998 |
| 9358574 | Biochemical markers of trisomy 21 and the pathophysiology of Down's syndrome pregnancies. | Prenat Diagn | 1997 |
| 9236646 | Screening for Down's syndrome: changes in marker levels and detection rates between first and second trimesters. | Br J Obstet Gynaecol | 1997 |
| 9281416 | Acute intermittent porphyria: the in vitro expression of mutant hydroxymethylbilane synthase. | Mol Cell Probes | 1997 |
| 9311740 | Evidence for a familial pregnancy-induced hypertension locus in the eNOS-gene region. | Am J Hum Genet | 1997 |
| 8606718 | Dimeric inhibin A as a marker for Down's syndrome in early pregnancy. | N Engl J Med | 1996 |
| 9161699 | An increased incidence of thyroid antibodies in patients with Turner's syndrome and their first degree relatives. | Autoimmunity | 1996 |
| 8953641 | Heat-stable and immunoreactive placental alkaline phosphatase in maternal serum from Down's syndrome and trisomy 18 pregnancies. | Prenat Diagn | 1996 |
| 8953638 | Insulin-dependent diabetes mellitus and prenatal screening results: current experience from a regional screening programme. | Prenat Diagn | 1996 |
| 9031845 | The pathophysiology of Down's syndrome pregnancies. | Early Hum Dev | 1996 |
| 8684377 | Detection of four mutations in six unrelated South African patients with acute intermittent porphyria. | Mol Cell Probes | 1996 |
| 8678940 | Fibrodysplasia ossificans progressiva -- lessons from rare maladies. | N Engl J Med | 1996 |
| 8737399 | A practical strategy for detection of major chromosome aneuploidies using ratio-mixing fluorescence in situ hybridization. | Mol Cell Probes | 1996 |
| 8843475 | Prenatal diagnosis by enzyme analysis in 15 pregnancies at risk for the Lesch-Nyhan syndrome. | Prenat Diagn | 1996 |
| 8826461 | Genetic localisation of MRX27 to Xq24-26 defines another discrete gene for non-specific X-linked mental retardation. | Am J Med Genet | 1996 |