Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients

[1]  P. Bayrak-Toydemir,et al.  A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7 , 2006, American journal of medical genetics. Part A.

[2]  Alain Calender,et al.  Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients , 2006, Human mutation.

[3]  P. Bayrak-Toydemir,et al.  Genotype–phenotype correlation in hereditary hemorrhagic telangiectasia: Mutations and manifestations * , 2006, American journal of medical genetics. Part A.

[4]  C. Shovlin,et al.  A new locus for hereditary haemorrhagic telangiectasia (HHT3) maps to chromosome 5 , 2005, Journal of Medical Genetics.

[5]  K. Brusgaard,et al.  Mutations in endoglin and in activin receptor‐like kinase 1 among Danish patients with hereditary haemorrhagic telangiectasia , 2004, Clinical genetics.

[6]  E. Génin,et al.  Estimating the age of rare disease mutations: the example of Triple-A syndrome , 2004, Journal of Medical Genetics.

[7]  S. Pinson,et al.  Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France , 2004, Human mutation.

[8]  A. Rustgi,et al.  A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4) , 2004, The Lancet.

[9]  A. E. Hirsh,et al.  On the use of star-shaped genealogies in inference of coalescence times. , 2003, Genetics.

[10]  E. Buscarini,et al.  Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia , 2002, Journal of medical genetics.

[11]  M. Goumans,et al.  Balancing the activation state of the endothelium via two distinct TGF‐β type I receptors , 2002, The EMBO journal.

[12]  T. Shioya,et al.  Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan , 2002, Human mutation.

[13]  P. Donnelly,et al.  A new statistical method for haplotype reconstruction from population data. , 2001, American journal of human genetics.

[14]  A. Duits,et al.  Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect , 2000, Human Genetics.

[15]  P. Donahoe,et al.  Activin receptor-like kinase 1 modulates transforming growth factor-beta 1 signaling in the regulation of angiogenesis. , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[16]  A. Kjeldsen,et al.  Hereditary haemorrhagic telangiectasia: a population‐based study of prevalence and mortality in Danish patients , 1999, Journal of internal medicine.

[17]  D. W. Johnson,et al.  A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12. , 1995, Genome research.

[18]  H. Plauchu,et al.  Epidemiological investigation of Rendu-Osler disease in France: its geographical distribution and prevalence. , 1989, Population. English selection.

[19]  H. Plauchu,et al.  Age-related clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. , 1989, American journal of medical genetics.

[20]  David N. Cooper,et al.  The CpG dinucleotide and human genetic disease , 1988, Human Genetics.

[21]  A. Munnich,et al.  Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example , 2008, European Journal of Human Genetics.

[22]  S. Dimmeler,et al.  Regulation of Angiogenesis by Angiotensin II , 2004 .

[23]  D. W. Johnson,et al.  Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1 , 1994, Nature Genetics.

[24]  P. Sasidharan,et al.  Hereditary haemorrhagic telangiectasia. , 1990, The Journal of the Association of Physicians of India.