Literature DB >> 19085972

Prenatal diagnosis of Larsen syndrome caused by a mutation in the filamin B gene.

N Winer1, F Kyndt, A Paumier, A David, B Isidor, M Quentin, B Jouitteau, P Sanyas, H J Philippe, A Hernandez, D Krakow, C Le Caignec.   

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Year:  2009        PMID： 19085972      PMCID： PMC2713786          DOI： 10.1002/pd.2164

Source DB:  PubMed          Journal:  Prenat Diagn        ISSN： 0197-3851            Impact factor:   3.050


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  10 in total

1.  Clinical variability of Larsen syndrome: diagnosis in a father after sonographic detection of a severely affected fetus.

Authors:  R Becker; R D Wegner; J Kunze; S Runkel; M Vogel; M Entezami
Journal:  Clin Genet       Date:  2000-02       Impact factor: 4.438

2.  Prenatal sonographic diagnosis of Larsen syndrome.

Authors:  T Tongsong; C Wanapirak; S Pongsatha; J Sudasana
Journal:  J Ultrasound Med       Date:  2000-06       Impact factor: 2.153

3.  Three-dimensional ultrasound diagnosis of Larsen syndrome with further characterization of neurological sequelae.

Authors:  J C Shih; S S Peng; S M Hsiao; J H Wang; M K Shyu; C N Lee; F J Hsieh
Journal:  Ultrasound Obstet Gynecol       Date:  2004-07       Impact factor: 7.299

4.  Mutations in two regions of FLNB result in atelosteogenesis I and III.

Authors:  Claire Farrington-Rock; Marc H Firestein; Louise S Bicknell; Andrea Superti-Furga; Carlos A Bacino; Valerie Cormier-Daire; Martine Le Merrer; Clarisse Baumann; Joelle Roume; Patrick Rump; Joke B G M Verheij; Elizabeth Sweeney; David L Rimoin; Ralph S Lachman; Stephen P Robertson; Daniel H Cohn; Deborah Krakow
Journal:  Hum Mutat       Date:  2006-07       Impact factor: 4.878

5.  Prenatal diagnosis of recurrent Larsen syndrome: further definition of a lethal variant.

Authors:  D Mostello; L Hoechstetter; R W Bendon; P S Dignan; A E Oestreich; T A Siddiqi
Journal:  Prenat Diagn       Date:  1991-04       Impact factor: 3.050

6.  Brain dysplasia associated with Larsen-like syndrome.

Authors:  K Yamaguchi; Y Ogawa; T Handa
Journal:  Pediatr Neurol       Date:  1996-01       Impact factor: 3.372

7.  A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.

Authors:  Louise S Bicknell; Claire Farrington-Rock; Yousef Shafeghati; Patrick Rump; Yasemin Alanay; Yves Alembik; Navid Al-Madani; Helen Firth; Mohammad Hassan Karimi-Nejad; Chong Ae Kim; Kathryn Leask; Melissa Maisenbacher; Ellen Moran; John G Pappas; Paolo Prontera; Thomy de Ravel; Jean-Pierre Fryns; Elizabeth Sweeney; Alan Fryer; Sheila Unger; L C Wilson; Ralph S Lachman; David L Rimoin; Daniel H Cohn; Deborah Krakow; Stephen P Robertson
Journal:  J Med Genet       Date:  2006-06-26       Impact factor: 6.318

8.  Sporadic Larsen syndrome in a preterm female originally diagnosed as positional deformities due to oligohydramnios.

Authors:  Diaa E E Rizk; Krishnan R Nath; Intisar K Ibrahim; Nizar A Arafat; Lihadh I Al-Gazali
Journal:  Am J Perinatol       Date:  2006-01       Impact factor: 1.862

9.  Prenatal diagnosis and obstetric management of Larsen syndrome.

Authors:  B Rochelson; B Petrikovsky; S Shmoys
Journal:  Obstet Gynecol       Date:  1993-05       Impact factor: 7.661

10.  Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.

Authors:  Deborah Krakow; Stephen P Robertson; Lily M King; Timothy Morgan; Eiman T Sebald; Cristina Bertolotto; Sebastian Wachsmann-Hogiu; Dora Acuna; Sandor S Shapiro; Toshiro Takafuta; Salim Aftimos; Chong Ae Kim; Helen Firth; Carlos E Steiner; Valerie Cormier-Daire; Andrea Superti-Furga; Luisa Bonafe; John M Graham; Arthur Grix; Carlos A Bacino; Judith Allanson; Martin G Bialer; Ralph S Lachman; David L Rimoin; Daniel H Cohn
Journal:  Nat Genet       Date:  2004-02-29       Impact factor: 38.330
  10 in total
  3 in total

1.  Antenatal diagnosis of Larsen syndrome.

Authors:  M L Kulkarni; Mohamed Haseen Basha; Sudhakar Hegade; Thiyagaraj A Kumarasamy; Akhil M Kulkarni
Journal:  Indian J Pediatr       Date:  2010-07       Impact factor: 1.967

2.  Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.

Authors:  Marie Bernkopf; David Hunt; Nils Koelling; Tim Morgan; Amanda L Collins; Joanna Fairhurst; Stephen P Robertson; Andrew G L Douglas; Anne Goriely
Journal:  Hum Mutat       Date:  2017-07-06       Impact factor: 4.878

3.  Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.

Authors:  Katta Mohan Girisha; Abdul Mueed Bidchol; Luitgard Graul-Neumann; Ashish Gupta; Ute Hehr; Davor Lessel; Sean Nader; Hitesh Shah; Julia Wickert; Kerstin Kutsche
Journal:  BMC Med Genet       Date:  2016-04-06       Impact factor: 2.103
  3 in total

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