Literature DB >> 9598741

New overgrowth syndrome and FGFR3 dosage effect.

M M Cohen, G Neri.   

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Year:  1998        PMID： 9598741      PMCID： PMC1051300          DOI： 10.1136/jmg.35.4.348-a

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  13 in total

1.  Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome.

Authors:  M W Partington; K Fagan; V Soubjaki; G Turner
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

2.  Pitt-Rogers-Danks syndrome and Wolf-Hirschhorn syndrome.

Authors:  D Donnai
Journal:  Am J Med Genet       Date:  1996-12-02

3.  Pitt-Rogers-Danks syndrome: the result of a 4p microdeletion.

Authors:  M Clemens; J T Martsolf; J G Rogers; P Mowery-Rushton; U Surti; E McPherson
Journal:  Am J Med Genet       Date:  1996-12-02

Review 4.  FGFR activation in skeletal disorders: too much of a good thing.

Authors:  M K Webster; D J Donoghue
Journal:  Trends Genet       Date:  1997-05       Impact factor: 11.639

5.  A gene encoding a fibroblast growth factor receptor isolated from the Huntington disease gene region of human chromosome 4.

Authors:  L M Thompson; S Plummer; M Schalling; M R Altherr; J F Gusella; D E Housman; J J Wasmuth
Journal:  Genomics       Date:  1991-12       Impact factor: 5.736

6.  Mutation analysis of the Bruton's tyrosine kinase gene in X-linked agammaglobulinemia: identification of a mutation which affects the same codon as is altered in immunodeficient xid mice.

Authors:  M de Weers; R G Mensink; M E Kraakman; R K Schuurman; R W Hendriks
Journal:  Hum Mol Genet       Date:  1994-01       Impact factor: 6.150

7.  A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region.

Authors:  T J Wright; D O Ricke; K Denison; S Abmayr; P D Cotter; K Hirschhorn; M Keinänen; D McDonald-McGinn; M Somer; N Spinner; T Yang-Feng; E Zackai; M R Altherr
Journal:  Hum Mol Genet       Date:  1997-02       Impact factor: 6.150

8.  From Pitt-Rogers-Danks syndrome to Wolf-Hirschhorn syndrome and back?

Authors:  M Zollino; R Bova; G Neri
Journal:  Am J Med Genet       Date:  1996-12-02

Review 9.  Summary of the 1993 ASHG ancillary meeting "recent research on chromosome 4p syndromes and genes".

Authors:  L L Estabrooks; W R Breg; M R Hayden; D H Ledbetter; R M Myers; H E Wyandt; T L Yang-Feng; K Hirschhorn
Journal:  Am J Med Genet       Date:  1995-02-13

10.  Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia.

Authors:  M K Webster; D J Donoghue
Journal:  EMBO J       Date:  1996-02-01       Impact factor: 11.598
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