Literature DB >> 18299846

[Okihiro syndrome : Duane's syndrome and radial malformations of the limbs].

A H Haus1, J Kohlhase, B Käsmann, B Seitz.   

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Year:  2008        PMID: 18299846     DOI: 10.1007/s00347-007-1633-7

Source DB:  PubMed          Journal:  Ophthalmologe        ISSN: 0941-293X            Impact factor:   1.059


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  19 in total

1.  SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.

Authors:  Jürgen Kohlhase; David Chitayat; Dieter Kotzot; Serdar Ceylaner; Ursula G Froster; Sigrun Fuchs; Tara Montgomery; Bernd Rösler
Journal:  Hum Mutat       Date:  2005-09       Impact factor: 4.878

2.  TBX5 genetic testing validates strict clinical criteria for Holt-Oram syndrome.

Authors:  Deborah A McDermott; Michael C Bressan; Jie He; Joseph S Lee; Salim Aftimos; Martina Brueckner; Fred Gilbert; Gail E Graham; Mark C Hannibal; Jeffrey W Innis; Mary Ella Pierpont; Annick Raas-Rothschild; Alan L Shanske; Wendy E Smith; Robert H Spencer; Martin G St John-Sutton; Lionel van Maldergem; Darrel J Waggoner; Matthew Weber; Craig T Basson
Journal:  Pediatr Res       Date:  2005-09-23       Impact factor: 3.756

3.  Localization of a gene for Duane retraction syndrome to chromosome 2q31.

Authors:  B Appukuttan; E Gillanders; S H Juo; D Freas-Lutz; S Ott; R Sood; A Van Auken; J Bailey-Wilson; X Wang; R J Patel; C M Robbins; M Chung; G Annett; K Weinberg; M S Borchert; J M Trent; M J Brownstein; J T Stout
Journal:  Am J Hum Genet       Date:  1999-12       Impact factor: 11.025

4.  Thalidomide may be a mutagen.

Authors:  W G McBride
Journal:  BMJ       Date:  1994-06-18

5.  The DNA sequence and comparative analysis of human chromosome 20.

Authors:  P Deloukas; L H Matthews; J Ashurst; J Burton; J G Gilbert; M Jones; G Stavrides; J P Almeida; A K Babbage; C L Bagguley; J Bailey; K F Barlow; K N Bates; L M Beard; D M Beare; O P Beasley; C P Bird; S E Blakey; A M Bridgeman; A J Brown; D Buck; W Burrill; A P Butler; C Carder; N P Carter; J C Chapman; M Clamp; G Clark; L N Clark; S Y Clark; C M Clee; S Clegg; V E Cobley; R E Collier; R Connor; N R Corby; A Coulson; G J Coville; R Deadman; P Dhami; M Dunn; A G Ellington; J A Frankland; A Fraser; L French; P Garner; D V Grafham; C Griffiths; M N Griffiths; R Gwilliam; R E Hall; S Hammond; J L Harley; P D Heath; S Ho; J L Holden; P J Howden; E Huckle; A R Hunt; S E Hunt; K Jekosch; C M Johnson; D Johnson; M P Kay; A M Kimberley; A King; A Knights; G K Laird; S Lawlor; M H Lehvaslaiho; M Leversha; C Lloyd; D M Lloyd; J D Lovell; V L Marsh; S L Martin; L J McConnachie; K McLay; A A McMurray; S Milne; D Mistry; M J Moore; J C Mullikin; T Nickerson; K Oliver; A Parker; R Patel; T A Pearce; A I Peck; B J Phillimore; S R Prathalingam; R W Plumb; H Ramsay; C M Rice; M T Ross; C E Scott; H K Sehra; R Shownkeen; S Sims; C D Skuce; M L Smith; C Soderlund; C A Steward; J E Sulston; M Swann; N Sycamore; R Taylor; L Tee; D W Thomas; A Thorpe; A Tracey; A C Tromans; M Vaudin; M Wall; J M Wallis; S L Whitehead; P Whittaker; D L Willey; L Williams; S A Williams; L Wilming; P W Wray; T Hubbard; R M Durbin; D R Bentley; S Beck; J Rogers
Journal:  Nature       Date:  2001 Dec 20-27       Impact factor: 49.962

6.  Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect.

Authors:  F Halal; M Homsy; G Perreault
Journal:  Am J Med Genet       Date:  1984-04

7.  Multigene deletions on chromosome 20q13.13-q13.2 including SALL4 result in an expanded phenotype of Okihiro syndrome plus developmental delay.

Authors:  Wiktor Borozdin; John M Graham; Detlef Böhm; Michael J Bamshad; Stefanie Spranger; Leah Burke; Michael Leipoldt; Jürgen Kohlhase
Journal:  Hum Mutat       Date:  2007-08       Impact factor: 4.878

8.  Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.

Authors:  Raidah Al-Baradie; Koki Yamada; Cynthia St Hilaire; Wai-Man Chan; Caroline Andrews; Nathalie McIntosh; Motoi Nakano; E Jean Martonyi; William R Raymond; Sada Okumura; Michael M Okihiro; Elizabeth C Engle
Journal:  Am J Hum Genet       Date:  2002-10-22       Impact factor: 11.025

9.  T-box gene tbx5 is essential for formation of the pectoral limb bud.

Authors:  Dae-gwon Ahn; Matthew J Kourakis; Laurel A Rohde; Lee M Silver; Robert K Ho
Journal:  Nature       Date:  2002-06-13       Impact factor: 49.962

10.  sall4 acts downstream of tbx5 and is required for pectoral fin outgrowth.

Authors:  Steven A Harvey; Malcolm P O Logan
Journal:  Development       Date:  2006-03       Impact factor: 6.868

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  1 in total

1.  A novel SALL4/OCT4 transcriptional feedback network for pluripotency of embryonic stem cells.

Authors:  Jianchang Yang; Chong Gao; Li Chai; Yupo Ma
Journal:  PLoS One       Date:  2010-05-21       Impact factor: 3.240

  1 in total

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