Literature DB >> 8544198

Vaginal rhabdomyosarcoma in a patient with Noonan syndrome.

S Khan1, H McDowell, M Upadhyaya, A Fryer.   

Abstract

This is the first report of a Noonan syndrome patient who has had a vaginal rhabdomyosarcoma. Recent reports of Noonan syndrome patients with leukaemia have prompted speculation that there may be a slightly increased malignancy risk associated with this syndrome.

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Year:  1995        PMID： 8544198      PMCID： PMC1051679          DOI： 10.1136/jmg.32.9.743

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


  19 in total

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Journal:  An Esp Pediatr       Date:  1982-07

5.  Familial neurofibromatosis and juvenile chronic myelogenous leukemia.

Authors:  R D Clark; J J Hutter
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

6.  Turner's syndrome in a male. Report of a case with myopia, retinal detachment, cataract, and glaucoma.

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7.  Neurofibromatosis and childhood leukemia.

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Journal:  J Pediatr       Date:  1978-06       Impact factor: 4.406

8.  The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21.

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Journal:  Cell       Date:  1990-11-16       Impact factor: 41.582

9.  Watson syndrome: is it a subtype of type 1 neurofibromatosis?

Authors:  J E Allanson; M Upadhyaya; G H Watson; M Partington; A MacKenzie; D Lahey; H MacLeod; M Sarfarazi; W Broadhead; P S Harper
Journal:  J Med Genet       Date:  1991-11       Impact factor: 6.318

10.  An Alu polymorphism intragenic to the neurofibromatosis type 1 gene (NF1).

Authors:  G F Xu; L Nelson; P O'Connell; R White
Journal:  Nucleic Acids Res       Date:  1991-07-11       Impact factor: 16.971
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  8 in total

1.  Costello syndrome: two cases with embryonal rhabdomyosarcoma.

Authors:  B Kerr; O B Eden; R Dandamudi; N Shannon; O Quarrell; A Emmerson; E Ladusans; M Gerrard; D Donnai
Journal:  J Med Genet       Date:  1998-12       Impact factor: 6.318

2.  Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment.

Authors:  Anna Papadopoulou; Michalis Issakidis; Evangelia Gole; Konstantina Kosma; Helen Fryssira; Andreas Fretzayas; Polyxeni Nicolaidou; Sophia Kitsiou-Tzeli
Journal:  Eur J Pediatr       Date:  2011-05-18       Impact factor: 3.183

3.  RasGRF1 regulates proliferation and metastatic behavior of human alveolar rhabdomyosarcomas.

Authors:  Maciej Tarnowski; Gabriela Schneider; Gabriele Amann; Geoffrey Clark; Peter Houghton; Frederic G Barr; Lukas Kenner; Mariusz Z Ratajczak; Magda Kucia
Journal:  Int J Oncol       Date:  2012-06-28       Impact factor: 5.650

4.  Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

Authors:  Marjolijn C J Jongmans; Ineke van der Burgt; Peter M Hoogerbrugge; Kees Noordam; Helger G Yntema; Willy M Nillesen; Roland P Kuiper; Marjolijn J L Ligtenberg; Ad Geurts van Kessel; J Han J M van Krieken; Lambertus A L M Kiemeney; Nicoline Hoogerbrugge
Journal:  Eur J Hum Genet       Date:  2011-03-16       Impact factor: 4.246

5.  Noonan syndrome - a new survey.

Authors:  Alireza Tafazoli; Peyman Eshraghi; Zahra Kamel Koleti; Mohammadreza Abbaszadegan
Journal:  Arch Med Sci       Date:  2016-12-19       Impact factor: 3.318

Review 6.  Germline predisposition to genitourinary rhabdomyosarcoma.

Authors:  Kami Wolfe Schneider; Nicholas G Cost; Kris Ann P Schultz; Shayna Svihovec; Alexandra Suttman
Journal:  Transl Androl Urol       Date:  2020-10

Review 7.  Noonan syndrome.

Authors:  Amy E Roberts; Judith E Allanson; Marco Tartaglia; Bruce D Gelb
Journal:  Lancet       Date:  2013-01-10       Impact factor: 79.321

Review 8.  BRAF gene: From human cancers to developmental syndromes.

Authors:  Muhammad Ramzan Manwar Hussain; Mukhtiar Baig; Hussein Sheik Ali Mohamoud; Zaheer Ulhaq; Daniel C Hoessli; Ghaidaa Siraj Khogeer; Ranem Radwan Al-Sayed; Jumana Yousuf Al-Aama
Journal:  Saudi J Biol Sci       Date:  2014-10-23       Impact factor: 4.219
  8 in total

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