Literature DB >> 3957353

Cutaneous manifestation of lethal genes.

R Happle.   

Abstract

Mesh：

Year:  1986        PMID： 3957353     DOI： 10.1007/bf00291899

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  8 in total

1.  Letter: Half chromatid mutations may explain incontinentia pigmenti in males.

Authors:  W Lenz
Journal:  Am J Hum Genet       Date:  1975-09       Impact factor: 11.025

2.  Further and new details on the Proteus syndrome.

Authors:  G R Burgio; H R Wiedemann
Journal:  Eur J Pediatr       Date:  1984-11       Impact factor: 3.183

3.  Rescue of a lethal T/t locus genotype by chimaerism with normal embryos.

Authors:  D Bennett
Journal:  Nature       Date:  1978-04-06       Impact factor: 49.962

Review 4.  Lyonization and the lines of Blaschko.

Authors:  R Happle
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

5.  The proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections.

Authors:  H R Wiedemann; G R Burgio; P Aldenhoff; J Kunze; H J Kaufmann; E Schirg
Journal:  Eur J Pediatr       Date:  1983-03       Impact factor: 3.183

6.  Variability in the Proteus syndrome: report of an affected child with progressive lipomatosis.

Authors:  J Mücke; H Willgerodt; R Künzel; D Brock
Journal:  Eur J Pediatr       Date:  1985-03       Impact factor: 3.183

7.  The McCune-Albright syndrome: a lethal gene surviving by mosaicism.

Authors:  R Happle
Journal:  Clin Genet       Date:  1986-04       Impact factor: 4.438

8.  [On the Schimmelpenning-Feuerstein-Mims-syndrome (Organoid Nevus-Phakomatosis) (author's transl)].

Authors:  O P Hornstein; M Knickenberg
Journal:  Arch Dermatol Forsch       Date:  1974-07-01
  8 in total
  26 in total

1.  A somatic MAP3K3 mutation is associated with verrucous venous malformation.

Authors:  Javier A Couto; Matthew P Vivero; Harry P W Kozakewich; Amir H Taghinia; John B Mulliken; Matthew L Warman; Arin K Greene
Journal:  Am J Hum Genet       Date:  2015-02-26       Impact factor: 11.025

Review 2.  Update on the molecular genetics of vascular anomalies.

Authors:  Qing K Wang
Journal:  Lymphat Res Biol       Date:  2005       Impact factor: 2.589

Review 3.  Mosaicism for a tandem duplication dup(1)(q12q22) in an 18 year old female.

Authors:  D de Silva; D Massie; J Drummond; D Couzin; J C Dean
Journal:  J Med Genet       Date:  1998-07       Impact factor: 6.318

4.  Proteus syndrome: report of a case with severe brain impairment and fatal course.

Authors:  R Rizzo; L Pavone; G Sorge; E Parano; M Baraitser
Journal:  J Med Genet       Date:  1990-06       Impact factor: 6.318

Review 5.  A genomic view of mosaicism and human disease.

Authors:  Leslie G Biesecker; Nancy B Spinner
Journal:  Nat Rev Genet       Date:  2013-05       Impact factor: 53.242

6.  A review of vascular anomalies: genetics and common syndromes.

Authors:  Elizabeth Killion; Kriti Mohan; Edward I Lee
Journal:  Semin Plast Surg       Date:  2014-05       Impact factor: 2.314

Review 7.  Neurocutaneous Manifestations of Genetic Mosaicism.

Authors:  Maurice A M van Steensel
Journal:  J Pediatr Genet       Date:  2015-11-30

8.  [Rudolf Happle celebrates his 80th birthday].

Authors:  C Has; A König
Journal:  Hautarzt       Date:  2018-04       Impact factor: 0.751

9.  Identification of association of common AGGF1 variants with susceptibility for Klippel-Trenaunay syndrome using the structure association program.

Authors:  Y Hu; L Li; S B Seidelmann; A A Timur; P H Shen; D J Driscoll; Q K Wang
Journal:  Ann Hum Genet       Date:  2008-06-16       Impact factor: 1.670

10.  New presenting symptoms of Chiari I malformation: report of two cases.

Authors:  Benedetta Ludovica Pettorini; Chenur Oesman; Shailendra Magdum
Journal:  Childs Nerv Syst       Date:  2010-03       Impact factor: 1.475
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