Literature DB >> 18386804

Spondylocarpotarsal synostosis: long-term follow-up of a case due to FLNB mutations.

Nicola Brunetti-Pierri1, Valentina Esposito, Daniele De Brasi, Dario Maria Mattiacci, Deborah Krakow, Brendan Lee, Mariacarolina Salerno.   

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Year:  2008        PMID： 18386804      PMCID： PMC2637032          DOI： 10.1002/ajmg.a.32303

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  12 in total

1.  A recessive form of congenital scoliosis different from spondylothoracic dysplasia.

Authors:  L O Langer; J H Moe
Journal:  Birth Defects Orig Artic Ser       Date:  1975

2.  Growth hormone deficiency in a case of cerebrofaciothoracic syndrome in one of two affected siblings.

Authors:  Christina Kanaka-Gantenbein; Helen Fryssira; George Chrousos; George Mastorakos
Journal:  Am J Med Genet A       Date:  2004-09-01       Impact factor: 2.802

Review 3.  Three new cases of spondylocarpotarsal synostosis syndrome: clinical and radiographic studies.

Authors:  K E Coêlho; E S Ramos; T M Felix; L Martelli; J M de Pina-Neto; N Niikawa
Journal:  Am J Med Genet       Date:  1998-04-28

4.  Spondylocarpotarsal synostosis syndrome: MRI evaluation of vertebral and disk malformation.

Authors:  Magnus Breitling; Edmond G Lemire; Michael Rabin
Journal:  Pediatr Radiol       Date:  2006-06-08

5.  Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.

Authors:  V L Sheen; P H Dixon; J W Fox; S E Hong; L Kinton; S M Sisodiya; J S Duncan; F Dubeau; I E Scheffer; S C Schachter; A Wilner; R Henchy; P Crino; K Kamuro; F DiMario; M Berg; R Kuzniecky; A J Cole; E Bromfield; M Biber; D Schomer; J Wheless; K Silver; G H Mochida; S F Berkovic; F Andermann; E Andermann; W B Dobyns; N W Wood; C A Walsh
Journal:  Hum Mol Genet       Date:  2001-08-15       Impact factor: 6.150

6.  Spondylocarpotarsal synostosis syndrome (with a posterior midline unsegmented bar).

Authors:  A Al Kaissi; M Ben Ghachem; N Nassib; F Ben Chehida; K Kozlowski
Journal:  Skeletal Radiol       Date:  2004-11-16       Impact factor: 2.199

7.  Spondylocarpotarsal synostosis syndrome and cervical instability.

Authors:  L H Seaver; E Boyd
Journal:  Am J Med Genet       Date:  2000-04-24

8.  Human beta-filamin is a new protein that interacts with the cytoplasmic tail of glycoprotein Ibalpha.

Authors:  T Takafuta; G Wu; G F Murphy; S S Shapiro
Journal:  J Biol Chem       Date:  1998-07-10       Impact factor: 5.157

9.  Filamin A and Filamin B are co-expressed within neurons during periods of neuronal migration and can physically interact.

Authors:  Volney L Sheen; Yuanyi Feng; Donna Graham; Toshiro Takafuta; Sandor S Shapiro; Christopher A Walsh
Journal:  Hum Mol Genet       Date:  2002-11-01       Impact factor: 6.150

10.  Disruption of the Flnb gene in mice phenocopies the human disease spondylocarpotarsal synostosis syndrome.

Authors:  Claire Farrington-Rock; Veneta Kirilova; Lisa Dillard-Telm; Alexander D Borowsky; Sara Chalk; Matthew J Rock; Daniel H Cohn; Deborah Krakow
Journal:  Hum Mol Genet       Date:  2007-07-17       Impact factor: 6.150
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  3 in total

1.  A novel truncating mutation in MYH3 causes spondylocarpotarsal synostosis syndrome with basilar invagination.

Authors:  Masaki Takagi; Satoshi Shimomura; Ryuji Fukuzawa; Satoshi Narumi; Gen Nishimura; Tomonobu Hasegawa
Journal:  J Hum Genet       Date:  2018-09-18       Impact factor: 3.172

2.  Conditional testing of multiple variants associated with bone mineral density in the FLNB gene region suggests that they represent a single association signal.

Authors:  Benjamin H Mullin; Cyril Mamotte; Richard L Prince; Tim D Spector; Frank Dudbridge; Scott G Wilson
Journal:  BMC Genet       Date:  2013-10-31       Impact factor: 2.797

3.  Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome.

Authors:  Kaya Fukushima; Padmini Parthasarathy; Emma M Wade; Tim Morgan; Kalpana Gowrishankar; David M Markie; Stephen P Robertson
Journal:  Genes (Basel)       Date:  2021-04-05       Impact factor: 4.096
  3 in total

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