Literature DB >> 9678710

Holoprosencephaly in deletions of proximal chromosome 14q.

K Devriendt, J P Fryns, C P Chen.   

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Year:  1998        PMID： 9678710      PMCID： PMC1051376          DOI： 10.1136/jmg.35.7.612

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


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  8 in total

Review 1.  Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly.

Authors:  C P Chen; C C Lee; L F Chen; C Y Chuang; S W Jan; B F Chen
Journal:  J Med Genet       Date:  1997-09       Impact factor: 6.318

2.  Another patient with a deletion 14q11.2q13.

Authors:  L Govaerts; J Toorman; M V Blij-Philipsen; D Smeets
Journal:  Ann Genet       Date:  1996

3.  Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.

Authors:  E Roessler; E Belloni; K Gaudenz; P Jay; P Berta; S W Scherer; L C Tsui; M Muenke
Journal:  Nat Genet       Date:  1996-11       Impact factor: 38.330

4.  Gene structure and expression of human thyroid transcription factor-1 in respiratory epithelial cells.

Authors:  K Ikeda; J C Clark; J R Shaw-White; M T Stahlman; C J Boutell; J A Whitsett
Journal:  J Biol Chem       Date:  1995-04-07       Impact factor: 5.157

5.  Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function.

Authors:  C Chiang; Y Litingtung; E Lee; K E Young; J L Corden; H Westphal; P A Beachy
Journal:  Nature       Date:  1996-10-03       Impact factor: 49.962

6.  The T/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary.

Authors:  S Kimura; Y Hara; T Pineau; P Fernandez-Salguero; C H Fox; J M Ward; F J Gonzalez
Journal:  Genes Dev       Date:  1996-01-01       Impact factor: 11.361

7.  Thyroid nuclear factor 1 (TTF-1) contains a homeodomain and displays a novel DNA binding specificity.

Authors:  S Guazzi; M Price; M De Felice; G Damante; M G Mattei; R Di Lauro
Journal:  EMBO J       Date:  1990-11       Impact factor: 11.598

8.  The transcription factor TTF-1 is expressed at the onset of thyroid and lung morphogenesis and in restricted regions of the foetal brain.

Authors:  D Lazzaro; M Price; M de Felice; R Di Lauro
Journal:  Development       Date:  1991-12       Impact factor: 6.868
  8 in total
  2 in total

1.  Selective depletion of molecularly defined cortical interneurons in human holoprosencephaly with severe striatal hypoplasia.

Authors:  Sofia Fertuzinhos; Zeljka Krsnik; Yuka Imamura Kawasawa; Mladen-Roko Rasin; Kenneth Y Kwan; Jie-Guang Chen; Milos Judas; Masaharu Hayashi; Nenad Sestan
Journal:  Cereb Cortex       Date:  2009-02-20       Impact factor: 5.357

2.  Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE.

Authors:  Jill A Rosenfeld; Blake C Ballif; Donna M Martin; Arthur S Aylsworth; Bassem A Bejjani; Beth S Torchia; Lisa G Shaffer
Journal:  Hum Genet       Date:  2010-04       Impact factor: 4.132
  2 in total

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