Literature DB >> 13512450

[Clinical contribution to symptomatology of phacomatosis].

G W SCHIMMELPENNING.   

Abstract

Entities:  

Keywords:  HAMARTOMA/case reports; NEVUS/case reports

Mesh：

Year:  1957        PMID： 13512450

Source DB:  PubMed          Journal:  Fortschr Geb Rontgenstr Nuklearmed        ISSN： 0015-8151


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  14 in total

1.  Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome.

Authors:  Leopold Groesser; Eva Herschberger; Arno Ruetten; Claudia Ruivenkamp; Enrico Lopriore; Markus Zutt; Thomas Langmann; Sebastian Singer; Laura Klingseisen; Wulf Schneider-Brachert; Agusti Toll; Francisco X Real; Michael Landthaler; Christian Hafner
Journal:  Nat Genet       Date:  2012-06-10       Impact factor: 38.330

2.  Computed tomography appearances in the linear sebaceous naevus syndrome.

Authors:  S Levin; R O Robinson; J Aicardi; R D Hoare
Journal:  Neuroradiology       Date:  1984       Impact factor: 2.804

3.  Multilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.

Authors:  Young H Lim; Diana Ovejero; Jeffrey S Sugarman; Cynthia M C Deklotz; Ann Maruri; Lawrence F Eichenfield; Patrick K Kelley; Harald Jüppner; Michael Gottschalk; Cynthia J Tifft; Rachel I Gafni; Alison M Boyce; Edward W Cowen; Nisan Bhattacharyya; Lori C Guthrie; William A Gahl; Gretchen Golas; Erin C Loring; John D Overton; Shrikant M Mane; Richard P Lifton; Moise L Levy; Michael T Collins; Keith A Choate
Journal:  Hum Mol Genet       Date:  2013-09-04       Impact factor: 6.150

4.  Oral HRAS Mutation in Orofacial Nevus Sebaceous Syndrome (Schimmelpenning-Feuerstein-Mims-Syndrome): A Case Report With a Literature Survey.

Authors:  Reinhard E Friedrich; Martin Gosau; Andreas M Luebke; Christian Hagel; Felix K Kohlrusch; Michael Hahn; Simon VON Kroge; Jan Hahn; Ilse Wieland; Martin Zenker
Journal:  In Vivo       Date:  2022 Jan-Feb       Impact factor: 2.155

5.  Neuroradiological findings in Jadassohn nevus phakomatosis: a report of four cases.

Authors:  J S Vles; P Degraeuwe; P De Cock; P Casaer
Journal:  Eur J Pediatr       Date:  1985-09       Impact factor: 3.183

Review 6.  DIAGNOSIS OF ENDOCRINE DISEASE: Mosaic disorders of FGF23 excess: Fibrous dysplasia/McCune-Albright syndrome and cutaneous skeletal hypophosphatemia syndrome.

Authors:  Luis F de Castro; Diana Ovejero; Alison M Boyce
Journal:  Eur J Endocrinol       Date:  2020-05       Impact factor: 6.664

Review 7.  Mosaic RASopathies.

Authors:  Christian Hafner; Leopold Groesser
Journal:  Cell Cycle       Date:  2012-12-19       Impact factor: 4.534

Review 8.  Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a multilineage somatic mosaic RASopathy.

Authors:  Young H Lim; Diana Ovejero; Kristina M Derrick; Michael T Collins; Keith A Choate
Journal:  J Am Acad Dermatol       Date:  2016-08       Impact factor: 11.527

9.  A rare case of chylothorax in a patient with schimmelpenning syndrome.

Authors:  Bettina Schlolaut; Hans Heinz Schild; Joachim Pfannschmidt; Dirk Kaiser
Journal:  Thorac Cardiovasc Surg Rep       Date:  2014-10-31

10.  Ophthalmic Manifestation and Pathological Features in a Cohort of Patients With Linear Nevus Sebaceous Syndrome and Encephalocraniocutaneous Lipomatosis.

Authors:  Yan Yan; Siyi Zhang; Henghua Zhou; Yixiong Zhou; Yao Fu
Journal:  Front Pediatr       Date:  2021-05-20       Impact factor: 3.418
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