Literature DB >> 22711845

Rothmund-Thomson syndrome--a single case report with systemic muscular atrophy, multiple organ fibrosis and pulmonary cachexia.

Matthias Meier, Anke Schwarz.   

Abstract

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Year:  2012        PMID： 22711845     DOI： 10.1093/rheumatology/kes143

Source DB:  PubMed          Journal:  Rheumatology (Oxford)        ISSN： 1462-0324            Impact factor:   7.580


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  4 in total

1.  CUGC for hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP).

Authors:  Sébastien Küry; Sandra Mercier; Gasnat Shaboodien; Thomas Besnard; Sébastien Barbarot; Nonhlanhla P Khumalo; Bongani M Mayosi; Stéphane Bézieau
Journal:  Eur J Hum Genet       Date:  2015-10-07       Impact factor: 4.246

2.  Case Report: Hereditary Fibrosing Poikiloderma With Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP) Presenting With Liver Cirrhosis and Steroid-Responsive Interstitial Pneumonia.

Authors:  Michiko Takimoto-Sato; Toshinari Miyauchi; Masaru Suzuki; Hideyuki Ujiie; Toshifumi Nomura; Tomoo Ikari; Tomohiko Nakamura; Kei Takahashi; Machiko Matsumoto-Sasaki; Hirokazu Kimura; Hiroki Kimura; Yuichiro Matsui; Takashi Kitagataya; Ren Yamada; Kazuharu Suzuki; Akihisa Nakamura; Masato Nakai; Takuya Sho; Koji Ogawa; Naoya Sakamoto; Naoko Yamaguchi; Noriyuki Otsuka; Utano Tomaru; Satoshi Konno
Journal:  Front Genet       Date:  2022-05-05       Impact factor: 4.772

3.  Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.

Authors:  Sandra Mercier; Sébastien Küry; Emmanuelle Salort-Campana; Armelle Magot; Uchenna Agbim; Thomas Besnard; Nathalie Bodak; Chantal Bou-Hanna; Flora Bréhéret; Perrine Brunelle; Florence Caillon; Brigitte Chabrol; Valérie Cormier-Daire; Albert David; Bruno Eymard; Laurence Faivre; Dominique Figarella-Branger; Emmanuelle Fleurence; Mythily Ganapathi; Romain Gherardi; Alice Goldenberg; Antoine Hamel; Jeanine Igual; Alan D Irvine; Dominique Israël-Biet; Caroline Kannengiesser; Christian Laboisse; Cédric Le Caignec; Jean-Yves Mahé; Stéphanie Mallet; Stuart MacGowan; Maeve A McAleer; Irwin McLean; Cécile Méni; Arnold Munnich; Jean-Marie Mussini; Peter L Nagy; Jeffrey Odel; Grainne M O'Regan; Yann Péréon; Julie Perrier; Juliette Piard; Eve Puzenat; Jacinda B Sampson; Frances Smith; Nadem Soufir; Kurenai Tanji; Christel Thauvin; Christina Ulane; Rosemarie M Watson; Nonhlanhla P Khumalo; Bongani M Mayosi; Sébastien Barbarot; Stéphane Bézieau
Journal:  Orphanet J Rare Dis       Date:  2015-10-15       Impact factor: 4.123

4.  Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis.

Authors:  Sandra Mercier; Sébastien Küry; Gasnat Shaboodien; Darren T Houniet; Nonhlanhla P Khumalo; Chantal Bou-Hanna; Nathalie Bodak; Valérie Cormier-Daire; Albert David; Laurence Faivre; Dominique Figarella-Branger; Romain K Gherardi; Elise Glen; Antoine Hamel; Christian Laboisse; Cédric Le Caignec; Pierre Lindenbaum; Armelle Magot; Arnold Munnich; Jean-Marie Mussini; Komala Pillay; Thahira Rahman; Richard Redon; Emmanuelle Salort-Campana; Mauro Santibanez-Koref; Christel Thauvin; Sébastien Barbarot; Bernard Keavney; Stéphane Bézieau; Bongani M Mayosi
Journal:  Am J Hum Genet       Date:  2013-11-21       Impact factor: 11.025
  4 in total

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