Literature DB >> 7823706

Somatic mosaicism and clinical variation in tuberous sclerosis complex.

S Verhoef, R Vrtel, T van Essen, L Bakker, E Sikkens, D Halley, D Lindhout, A van den Ouweland.   

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Year:  1995        PMID： 7823706     DOI： 10.1016/s0140-6736(95)90213-9

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  19 in total

Review 1.  Advances in the understanding of tuberous sclerosis.

Authors:  F J O'Callaghan; J P Osborne
Journal:  Arch Dis Child       Date:  2000-08       Impact factor: 3.791

2.  Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation.

Authors:  M van Slegtenhorst; S Verhoef; A Tempelaars; L Bakker; Q Wang; M Wessels; R Bakker; M Nellist; D Lindhout; D Halley; A van den Ouweland
Journal:  J Med Genet       Date:  1999-04       Impact factor: 6.318

3.  Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients.

Authors:  Ans M W van den Ouweland; Peter Elfferich; Bernard A Zonnenberg; Willem F Arts; Tjitske Kleefstra; Mark D Nellist; Jose M Millan; Caroline Withagen-Hermans; Anneke J A Maat-Kievit; Dicky J J Halley
Journal:  Eur J Hum Genet       Date:  2010-09-29       Impact factor: 4.246

4.  Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis.

Authors:  T Carsillo; A Astrinidis; E P Henske
Journal:  Proc Natl Acad Sci U S A       Date:  2000-05-23       Impact factor: 11.205

5.  Germ-line and somatic mosaicism in the androgen insensitivity syndrome: implications for genetic counseling.

Authors:  A L Boehmer; A O Brinkmann; M F Niermeijer; L Bakker; D J Halley; S L Drop
Journal:  Am J Hum Genet       Date:  1997-04       Impact factor: 11.025

Review 6.  New developments in the genetics and pathogenesis of tumours in tuberous sclerosis complex.

Authors:  Hilaire C Lam; Julie Nijmeh; Elizabeth P Henske
Journal:  J Pathol       Date:  2016-11-29       Impact factor: 7.996

Review 7.  [Hereditary tumor syndromes in neuropathology].

Authors:  C Mawrin
Journal:  Pathologe       Date:  2017-05       Impact factor: 1.011

8.  Germ-line mosaicism in tuberous sclerosis: how common?

Authors:  V M Rose; K S Au; G Pollom; E S Roach; H R Prashner; H Northrup
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

9.  High rate of mosaicism in tuberous sclerosis complex.

Authors:  S Verhoef; L Bakker; A M Tempelaars; A L Hesseling-Janssen; T Mazurczak; S Jozwiak; A Fois; G Bartalini; B A Zonnenberg; A J van Essen; D Lindhout; D J Halley; A M van den Ouweland
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025

10.  Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex.

Authors:  R Vrtel; S Verhoef; K Bouman; M M Maheshwar; M Nellist; A J van Essen; P L Bakker; C J Hermans; M T Bink-Boelkens; R M van Elburg; M Hoff; D Lindhout; J Sampson; D J Halley; A M van den Ouweland
Journal:  J Med Genet       Date:  1996-01       Impact factor: 6.318
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