Literature DB >> 10441597

Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.

G Collod-Béroud, M Lackmy-Port-Lys, G Jondeau, M Mathieu, Y Maingourd, M Coulon, M Guillotel, C Junien, C Boileau.   

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Year:  1999        PMID： 10441597      PMCID： PMC1377997          DOI： 10.1086/302545

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  8 in total

1.  Clinical utility gene card for: Marfan syndrome type 1 and related phenotypes [FBN1].

Authors:  Mine Arslan-Kirchner; Eloisa Arbustini; Catherine Boileau; Anne Child; Gwenaelle Collod-Beroud; Anne De Paepe; Jörg Epplen; Guillaume Jondeau; Bart Loeys; Laurence Faivre
Journal:  Eur J Hum Genet       Date:  2010-04-07       Impact factor: 4.246

Review 2.  FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders.

Authors:  Lynn Y Sakai; Douglas R Keene; Marjolijn Renard; Julie De Backer
Journal:  Gene       Date:  2016-07-18       Impact factor: 3.688

3.  Novel Marfan Syndrome-Associated Mutation in the FBN1 Gene Caused by Parental Mosaicism and Leading to Abnormal Limb Patterning.

Authors:  Efrén Martínez-Quintana; Noemí Caballero-Sánchez; Fayna Rodríguez-González; Paloma Garay-Sánchez; Antonio Tugores
Journal:  Mol Syndromol       Date:  2017-03-31

4.  Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.

Authors:  Chantal Stheneur; Gwenaëlle Collod-Béroud; Laurence Faivre; Jean François Buyck; Laurent Gouya; Jean-Marie Le Parc; Bertrand Moura; Christine Muti; Bernard Grandchamp; Gilles Sultan; Mireille Claustres; Philippe Aegerter; Bertrand Chevallier; Guillaume Jondeau; Catherine Boileau
Journal:  Eur J Hum Genet       Date:  2009-03-18       Impact factor: 4.246

5.  Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain.

Authors:  Laurianne Le Gloan; Quentin Hauet; Albert David; Nadine Hanna; Chloé Arfeuille; Pauline Arnaud; Catherine Boileau; Bénédicte Romefort; Nadir Benbrik; Véronique Gournay; Nicolas Joram; Olivier Baron; Bertrand Isidor
Journal:  Mol Syndromol       Date:  2016-02-02

6.  Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.

Authors:  Gail C Jackson; Laureane Mittaz-Crettol; Jacqueline A Taylor; Geert R Mortier; Juergen Spranger; Bernhard Zabel; Martine Le Merrer; Valerie Cormier-Daire; Christine M Hall; Amaka Offiah; Michael J Wright; Ravi Savarirayan; Gen Nishimura; Simon C Ramsden; Rob Elles; Luisa Bonafe; Andrea Superti-Furga; Sheila Unger; Andreas Zankl; Michael D Briggs
Journal:  Hum Mutat       Date:  2011-10-31       Impact factor: 4.878

Review 7.  A Case Based Approach to Clinical Genetics of Thoracic Aortic Aneurysm/Dissection.

Authors:  Betti Giusti; Stefano Nistri; Elena Sticchi; Rosina De Cario; Rosanna Abbate; Gian Franco Gensini; Guglielmina Pepe
Journal:  Biomed Res Int       Date:  2016-05-25       Impact factor: 3.411

8.  Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disorders.

Authors:  Bertrand Chesneau; Aurélie Plancke; Guillaume Rolland; Nicolas Chassaing; Christine Coubes; Elise Brischoux-Boucher; Thomas Edouard; Yves Dulac; Marion Aubert-Mucca; Thierry Lavabre-Bertrand; Julie Plaisancié; Philippe Khau Van Kien
Journal:  Eur J Hum Genet       Date:  2021-01-07       Impact factor: 5.351
  8 in total

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