Literature DB >> 8328448

Genotype, malleotype, phenotype, and randomness: lessons from neurofibromatosis-1 (NF-1)

V M Riccardi.   

Abstract

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Mesh：

Year:  1993        PMID： 8328448      PMCID： PMC1682332     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  13 in total

1.  Parental origin of the fra(X) gene is a major determinant of the cytogenetic expression and the CGG repeat length in female carriers.

Authors:  A Smits; D Smeets; J Dreesen; B Hamel; A de Haan; B van Oost
Journal:  Am J Med Genet       Date:  1992 Apr 15-May 1

Review 2.  Triplet repeat mutations in human disease.

Authors:  C T Caskey; A Pizzuti; Y H Fu; R G Fenwick; D L Nelson
Journal:  Science       Date:  1992-05-08       Impact factor: 47.728

3.  Methylation and imprinting: from host defense to gene regulation?

Authors:  D P Barlow
Journal:  Science       Date:  1993-04-16       Impact factor: 47.728

Review 4.  Neurofibromatosis: clinical heterogeneity.

Authors:  V M Riccardi
Journal:  Curr Probl Cancer       Date:  1982-08       Impact factor: 3.187

5.  Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism.

Authors:  L M Kayes; V M Riccardi; W Burke; R L Bennett; K Stephens
Journal:  J Med Genet       Date:  1992-10       Impact factor: 6.318

6.  Abnormalities of chromosome 22 in human brain tumors determined by combined cytogenetic and molecular genetic approaches.

Authors:  J A Rey; M J Bello; J M de Campos; J Vaquero; M E Kusak; J L Sarasa; A Pestaña
Journal:  Cancer Genet Cytogenet       Date:  1993-03

7.  A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor.

Authors:  J A Trofatter; M M MacCollin; J L Rutter; J R Murrell; M P Duyao; D M Parry; R Eldridge; N Kley; A G Menon; K Pulaski
Journal:  Cell       Date:  1993-03-12       Impact factor: 41.582

8.  Genetic mosaicism in normal tissues of Wilms' tumour patients.

Authors:  L Y Chao; V Huff; G Tomlinson; V M Riccardi; L C Strong; G F Saunders
Journal:  Nat Genet       Date:  1993-02       Impact factor: 38.330

9.  Penetrance of von Recklinghausen neurofibromatosis: a distinction between predecessors and descendants.

Authors:  V M Riccardi; R A Lewis
Journal:  Am J Hum Genet       Date:  1988-02       Impact factor: 11.025

Review 10.  Familiarity, recessivity and germline mosaicism.

Authors:  J H Edwards
Journal:  Ann Hum Genet       Date:  1989-01       Impact factor: 1.670
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  11 in total

1.  A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1.

Authors:  Anna Lia Gabriele; Martino Ruggieri; Alessandra Patitucci; Angela Magariello; Francesca Luisa Conforti; Rosalucia Mazzei; Maria Muglia; Carmine Ungaro; Gemma Di Palma; Luigi Citrigno; William Sproviero; Antonio Gambardella; Aldo Quattrone
Journal:  Childs Nerv Syst       Date:  2010-10-07       Impact factor: 1.475

Review 2.  [Evaluation of cancer risk through genetic analysis?].

Authors:  A Luz
Journal:  Strahlenther Onkol       Date:  1997-09       Impact factor: 3.621

Review 3.  Neurofibromatosis and related tumors. Natural occurrence and animal models.

Authors:  V M Riccardi; J E Womack; T Jacks
Journal:  Am J Pathol       Date:  1994-11       Impact factor: 4.307

4.  Water-clear cell parathyroid adenoma causing primary hyperparathyroidism in a patient with neurofibromatosis type 1: report of a case.

Authors:  Hitomi Kodama; Masatoshi Iihara; Takahiro Okamoto; Takao Obara
Journal:  Surg Today       Date:  2007-09-26       Impact factor: 2.549

5.  Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene.

Authors:  E Legius; R Wu; M Eyssen; P Marynen; J P Fryns; J J Cassiman
Journal:  J Med Genet       Date:  1995-04       Impact factor: 6.318

6.  Familial café au lait spots: a variant of neurofibromatosis type 1.

Authors:  D Abeliovich; Z Gelman-Kohan; S Silverstein; I Lerer; J Chemke; S Merin; J Zlotogora
Journal:  J Med Genet       Date:  1995-12       Impact factor: 6.318

Review 7.  Molecular genetics of neurofibromatosis type 1 (NF1).

Authors:  M H Shen; P S Harper; M Upadhyaya
Journal:  J Med Genet       Date:  1996-01       Impact factor: 6.318

8.  Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.

Authors:  R Fahsold; S Hoffmeyer; C Mischung; C Gille; C Ehlers; N Kücükceylan; M Abdel-Nour; A Gewies; H Peters; D Kaufmann; A Buske; S Tinschert; P Nürnberg
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025

9.  Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras.

Authors:  Frances Hannan; Ivan Ho; James Jiayuan Tong; Yinghua Zhu; Peter Nurnberg; Yi Zhong
Journal:  Hum Mol Genet       Date:  2006-03-02       Impact factor: 6.150

10.  The spectrum of NF1 mutations in Korean patients with neurofibromatosis type 1.

Authors:  Seon-Yong Jeong; Sang-Jin Park; Hyon J Kim
Journal:  J Korean Med Sci       Date:  2006-02       Impact factor: 2.153
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