Literature DB >> 26443268

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

Sébastien Küry1, Sandra Mercier1,2,3, Gasnat Shaboodien4, Thomas Besnard1, Sébastien Barbarot5, Nonhlanhla P Khumalo6, Bongani M Mayosi4, Stéphane Bézieau1.   

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Year:  2015        PMID： 26443268      PMCID： PMC4930101          DOI： 10.1038/ejhg.2015.205

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  11 in total

1.  Congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy.

Authors:  T KINDLER
Journal:  Br J Dermatol       Date:  1954-03       Impact factor: 9.302

2.  Clinical utility gene card for: Rothmund-Thomson syndrome.

Authors:  Lidia Larizza; Gaia Roversi; Alain Verloes
Journal:  Eur J Hum Genet       Date:  2012-11-28       Impact factor: 4.246

3.  Clinical utility gene card for: poikiloderma with neutropenia.

Authors:  Lidia Larizza; Gloria Negri; Elisa Adele Colombo; Ludovica Volpi; Yves Sznajer
Journal:  Eur J Hum Genet       Date:  2013-01-16       Impact factor: 4.246

4.  Hereditary sclerosing poikiloderma. Report of two families with an unusual and distinctive genodermatosis.

Authors:  P E Weary; Y T Hsu; D R Richardson; C M Caravati; B T Wood
Journal:  Arch Dermatol       Date:  1969-10

5.  Poikiloderma, tendon contracture and pulmonary fibrosis: a new autosomal dominant syndrome?

Authors:  N P Khumalo; K Pillay; P Beighton; H Wainwright; B Walker; N Saxe; B M Mayosi; E D Bateman
Journal:  Br J Dermatol       Date:  2006-11       Impact factor: 9.302

6.  Early blistering, poikiloderma, hypohidrosis, alopecia and exocrine pancreatic hypofunction: a peculiar variant of Rothmund-Thomson syndrome?

Authors:  Utako Otsu; Shinichi Moriwaki; Mariko Iki; Kenichi Nozaki; Yuji Horiguchi; Kimihiro Kiyokane
Journal:  Eur J Dermatol       Date:  2008-10-27       Impact factor: 3.328

Review 7.  Rothmund-Thomson syndrome.

Authors:  Lidia Larizza; Gaia Roversi; Ludovica Volpi
Journal:  Orphanet J Rare Dis       Date:  2010-01-29       Impact factor: 4.123

8.  Kindler syndrome in mice and men.

Authors:  Elizabeth K Duperret; Todd W Ridky
Journal:  Cancer Biol Ther       Date:  2014-06-11       Impact factor: 4.742

9.  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

10.  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
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  4 in total

1.  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

2.  Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma.

Authors:  Raphaëlle Goussot; Megana Prasad; Corinne Stoetzel; Cédric Lenormand; Hélène Dollfus; Dan Lipsker
Journal:  JAAD Case Rep       Date:  2017-03-19

3.  Case Report: Diverse phenotypes of congenital poikiloderma associated with FAM111B mutations in codon 628: A case report and literature review.

Authors:  Yuhao Wu; Long Wen; Peiru Wang; Xiuli Wang; Guolong Zhang
Journal:  Front Genet       Date:  2022-08-25       Impact factor: 4.772

4.  Mutations of FAM111B gene are not associated with Systemic Sclerosis.

Authors:  A Gcelu; G Deshpande; G Shaboodien; T F Spracklen; A Kalla; M Tikly; B M Mayosi; B Hodkinson
Journal:  Sci Rep       Date:  2018-10-30       Impact factor: 4.379
  4 in total

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