Literature DB >> 4302249

Dwarfism, oligophrenia and degeneration of the elastic tissue in skin and cornea. A new syndrome?

A M de Barsy, E Moens, L Dierckx.   

Abstract

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Year:  1968        PMID： 4302249

Source DB:  PubMed          Journal:  Helv Paediatr Acta        ISSN： 0018-022X


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  8 in total

1.  Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.

Authors:  Björn Fischer; Aikaterini Dimopoulou; Johannes Egerer; Thatjana Gardeitchik; Alexa Kidd; Dominik Jost; Hülya Kayserili; Yasemin Alanay; Iliana Tantcheva-Poor; Elisabeth Mangold; Cornelia Daumer-Haas; Shubha Phadke; Reto I Peirano; Julia Heusel; Charu Desphande; Neerja Gupta; Arti Nanda; Emma Felix; Elisabeth Berry-Kravis; Madhulika Kabra; Ron A Wevers; Lionel van Maldergem; Stefan Mundlos; Eva Morava; Uwe Kornak
Journal:  Hum Genet       Date:  2012-07-08       Impact factor: 4.132

2.  [Bright ocular background with profound cutis laxa and large fontanelles].

Authors:  I Marjanovic; B Seitz; B Käsmann-Kellner
Journal:  Ophthalmologe       Date:  2015-01       Impact factor: 1.059

3.  De Barsy syndrome--an autosomal recessive, progeroid syndrome.

Authors:  J Kunze; F Majewski; P Montgomery; A Hockey; I Karkut; T Riebel
Journal:  Eur J Pediatr       Date:  1985-11       Impact factor: 3.183

4.  Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.

Authors:  Björn Fischer-Zirnsak; Nathalie Escande-Beillard; Jaya Ganesh; Yu Xuan Tan; Mohammed Al Bughaili; Angela E Lin; Inderneel Sahai; Paulina Bahena; Sara L Reichert; Abigail Loh; Graham D Wright; Jaron Liu; Elisa Rahikkala; Eniko K Pivnick; Asim F Choudhri; Ulrike Krüger; Tomasz Zemojtel; Conny van Ravenswaaij-Arts; Roya Mostafavi; Irene Stolte-Dijkstra; Sofie Symoens; Leila Pajunen; Lihadh Al-Gazali; David Meierhofer; Peter N Robinson; Stefan Mundlos; Camilo E Villarroel; Peter Byers; Amira Masri; Stephen P Robertson; Ulrike Schwarze; Bert Callewaert; Bruno Reversade; Uwe Kornak
Journal:  Am J Hum Genet       Date:  2015-08-27       Impact factor: 11.025

Review 5.  Autosomal recessive cutis laxa syndrome revisited.

Authors:  Eva Morava; Maïlys Guillard; Dirk J Lefeber; Ron A Wevers
Journal:  Eur J Hum Genet       Date:  2009-04-29       Impact factor: 4.246

6.  Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.

Authors:  Thatjana Gardeitchik; Miski Mohamed; Björn Fischer; Martin Lammens; Dirk Lefeber; Baiba Lace; Michael Parker; Ki-Joong Kim; Bing C Lim; Johannes Häberle; Livia Garavelli; Sujatha Jagadeesh; Ariana Kariminejad; Deanna Guerra; Michel Leão; Riikka Keski-Filppula; Han Brunner; Leo Nijtmans; Bert van den Heuvel; Ron Wevers; Uwe Kornak; Eva Morava
Journal:  Eur J Hum Genet       Date:  2013-08-21       Impact factor: 4.246

7.  New lethal disease involving type I and III collagen defect resembling geroderma osteodysplastica, De Barsy syndrome, and Ehlers-Danlos syndrome IV.

Authors:  A Jukkola; S Kauppila; L Risteli; K Vuopala; J Risteli; J Leisti; L Pajunen
Journal:  J Med Genet       Date:  1998-06       Impact factor: 6.318

8.  Biochemical, morphological and immunological findings in a patient with a cutis laxa-associated inborn disorder (De Barsy syndrome).

Authors:  B F Pontz; F Zepp; H Stöss
Journal:  Eur J Pediatr       Date:  1986-10       Impact factor: 3.183
  8 in total

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