Literature DB >> 12114496

Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia.

C Olivieri1, E Mira, G Delù, F Pagella, A Zambelli, L Malvezzi, E Buscarini, C Danesino.   

Abstract

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Year:  2002        PMID： 12114496      PMCID： PMC1735165          DOI： 10.1136/jmg.39.7.e39

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  15 in total

1.  Heterogeneity amongst splenic stromal cell lines which support dendritic cell hematopoiesis.

Authors:  Geneviève Despars; Helen C O'Neill
Journal:  In Vitro Cell Dev Biol Anim       Date:  2006 Jul-Aug       Impact factor: 2.416

2.  Three novel mutations in the activin receptor-like kinase 1 (ALK-1) gene in hereditary hemorrhagic telangiectasia type 2 in Brazilian patients.

Authors:  A M Assis; F F Costa; V R Arruda; J M Annichino-Bizzacchi; C S Bertuzzo
Journal:  J Hum Genet       Date:  2007-01-12       Impact factor: 3.172

3.  Gastric angiodysplasia in a hereditary hemorrhagic telangiectasia type 2 patient.

Authors:  Minsu Ha; Yoon Jae Kim; Kwang An Kwon; Ki Baik Hahm; Mi-Jung Kim; Dong Kyu Kim; Young Jae Lee; S Paul Oh
Journal:  World J Gastroenterol       Date:  2012-04-21       Impact factor: 5.742

Review 4.  Hereditary hemorrhagic telangiectasia, a vascular dysplasia affecting the TGF-beta signaling pathway.

Authors:  Africa Fernández-L; Francisco Sanz-Rodriguez; Francisco J Blanco; Carmelo Bernabéu; Luisa M Botella
Journal:  Clin Med Res       Date:  2006-03

Review 5.  Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Authors:  S A Abdalla; M Letarte
Journal:  J Med Genet       Date:  2005-05-06       Impact factor: 6.318

6.  Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients.

Authors:  T G W Letteboer; R A Zewald; E J Kamping; G de Haas; J J Mager; R J Snijder; D Lindhout; F A M Hennekam; C J J Westermann; J K Ploos van Amstel
Journal:  Hum Genet       Date:  2004-10-23       Impact factor: 4.132

7.  Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia.

Authors:  R E Harrison; J A Flanagan; M Sankelo; S A Abdalla; J Rowell; R D Machado; C G Elliott; I M Robbins; H Olschewski; V McLaughlin; E Gruenig; F Kermeen; M Halme; A Räisänen-Sokolowski; T Laitinen; N W Morrell; R C Trembath
Journal:  J Med Genet       Date:  2003-12       Impact factor: 6.318

8.  Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome.

Authors:  Carla Olivieri; Paola Maraschio; Desiree Caselli; Carla Martini; Giampiero Beluffi; Emanuela Maserati; Cesare Danesino
Journal:  Eur J Pediatr       Date:  2002-12-10       Impact factor: 3.183

9.  Analysis of ENG and ACVRL1 genes in 137 HHT Italian families identifies 76 different mutations (24 novel). Comparison with other European studies.

Authors:  Carla Olivieri; Fabio Pagella; Lucia Semino; Luca Lanzarini; Cristina Valacca; Andrea Pilotto; Sabrina Corno; Susi Scappaticci; Guido Manfredi; Elisabetta Buscarini; Cesare Danesino
Journal:  J Hum Genet       Date:  2007-09-05       Impact factor: 3.172

10.  Mutation study of Spanish patients with hereditary hemorrhagic telangiectasia.

Authors:  Ana Fontalba; Africa Fernandez-L; Eva García-Alegria; Virginia Albiñana; Eva M Garrido-Martin; Francisco J Blanco; Roberto Zarrabeitia; Alfonso Perez-Molino; Maria E Bernabeu-Herrero; Maria-Luisa Ojeda; Jose L Fernandez-Luna; Carmelo Bernabeu; Luisa M Botella
Journal:  BMC Med Genet       Date:  2008-08-01       Impact factor: 2.103
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