Literature DB >> 8651273

The FRAXE Syndrome: is it time for routine screening?

W T Brown.   

Abstract

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Year:  1996        PMID: 8651273      PMCID: PMC1914605     

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


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  23 in total

1.  Cytogenetically negative, linkage positive "fragile X" syndrome.

Authors:  S Sklower Brooks; I Cohen; C Ferrando; E C Jenkins; W T Brown; C Dobkin
Journal:  Am J Med Genet       Date:  1991 Feb-Mar

Review 2.  The fragile X: progress toward solving the puzzle.

Authors:  W T Brown
Journal:  Am J Hum Genet       Date:  1990-08       Impact factor: 11.025

3.  A candidate gene for mild mental handicap at the FRAXE fragile site.

Authors:  L Chakrabarti; S J Knight; A V Flannery; K E Davies
Journal:  Hum Mol Genet       Date:  1996-02       Impact factor: 6.150

4.  Cytogenetic versus DNA diagnosis in routine referrals for fragile X syndrome.

Authors:  Q Wang; E Green; A Barnicoat; D Garrett; M Mullarkey; M Bobrow; C G Mathew
Journal:  Lancet       Date:  1993-10-23       Impact factor: 79.321

5.  Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap.

Authors:  S J Knight; M A Voelckel; M C Hirst; A V Flannery; A Moncla; K E Davies
Journal:  Am J Hum Genet       Date:  1994-07       Impact factor: 11.025

6.  Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.

Authors:  S J Knight; A V Flannery; M C Hirst; L Campbell; Z Christodoulou; S R Phelps; J Pointon; H R Middleton-Price; A Barnicoat; M E Pembrey
Journal:  Cell       Date:  1993-07-16       Impact factor: 41.582

7.  Cloning of cDNAs of the MLL gene that detect DNA rearrangements and altered RNA transcripts in human leukemic cells with 11q23 translocations.

Authors:  N R McCabe; R C Burnett; H J Gill; M J Thirman; D Mbangkollo; M Kipiniak; E van Melle; S Ziemin-van der Poel; J D Rowley; M O Diaz
Journal:  Proc Natl Acad Sci U S A       Date:  1992-12-15       Impact factor: 11.205

8.  Cerebellar degeneration-related antigen: a highly conserved neuroectodermal marker mapped to chromosomes X in human and mouse.

Authors:  Y T Chen; W J Rettig; A K Yenamandra; C A Kozak; R S Chaganti; J B Posner; L J Old
Journal:  Proc Natl Acad Sci U S A       Date:  1990-04       Impact factor: 11.205

9.  Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.

Authors:  W T Brown; G E Houck; A Jeziorowska; F N Levinson; X Ding; C Dobkin; N Zhong; J Henderson; S S Brooks; E C Jenkins
Journal:  JAMA       Date:  1993-10-06       Impact factor: 56.272

10.  Population incidence and segregation ratios in the Martin-Bell syndrome.

Authors:  T P Webb; S E Bundey; A I Thake; J Todd
Journal:  Am J Med Genet       Date:  1986 Jan-Feb
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  15 in total

1.  Coverage of new genetic technologies: what matters to insurers?

Authors:  M Schoonmaker; B Bernhardt; N A Holtzman
Journal:  Am J Hum Genet       Date:  1996-10       Impact factor: 11.025

2.  FRAXE testing.

Authors:  E Holinski-Feder; S Chahrokh-Zadeh; K B Jedele; A Meindl; P Steinbach; D Wöhrle
Journal:  Am J Hum Genet       Date:  1996-11       Impact factor: 11.025

3.  Chromosomal fragility and human genetic disorders.

Authors:  S Baskaran; V Brahmachari
Journal:  Indian J Clin Biochem       Date:  2000-08

4.  FRAXA and FRAXE: the results of a five year survey.

Authors:  S A Youings; A Murray; N Dennis; S Ennis; C Lewis; N McKechnie; M Pound; A Sharrock; P Jacobs
Journal:  J Med Genet       Date:  2000-06       Impact factor: 6.318

Review 5.  Fragile X syndrome. Molecular and clinical insights and treatment issues.

Authors:  R J Hagerman
Journal:  West J Med       Date:  1997-02

Review 6.  Synaptic regulation of protein synthesis and the fragile X protein.

Authors:  W T Greenough; A Y Klintsova; S A Irwin; R Galvez; K E Bates; I J Weiler
Journal:  Proc Natl Acad Sci U S A       Date:  2001-06-19       Impact factor: 11.205

7.  Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits.

Authors:  T A Comery; J B Harris; P J Willems; B A Oostra; S A Irwin; I J Weiler; W T Greenough
Journal:  Proc Natl Acad Sci U S A       Date:  1997-05-13       Impact factor: 11.205

8.  Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation.

Authors:  I J Weiler; S A Irwin; A Y Klintsova; C M Spencer; A D Brazelton; K Miyashiro; T A Comery; B Patel; J Eberwine; W T Greenough
Journal:  Proc Natl Acad Sci U S A       Date:  1997-05-13       Impact factor: 11.205

9.  Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population.

Authors:  D C Crawford; K L Meadows; J L Newman; L F Taft; D L Pettay; L B Gold; S J Hersey; E F Hinkle; M L Stanfield; P Holmgreen; M Yeargin-Allsopp; C Boyle; S L Sherman
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

10.  Autism spectrum disorder: FRAXE mutation, a rare etiology.

Authors:  F Correia; C Café; J Almeida; S Mouga; G Oliveira
Journal:  J Autism Dev Disord       Date:  2015-03
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