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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

135 related items for PubMed ID: 23266637

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  • 2. Molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome (AARRS) and Fuhrmann syndrome.
    Al-Qattan MM.
    Am J Med Genet A; 2013 Sep; 161A(9):2274-80. PubMed ID: 23922166
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  • 3. A report of two cases of Al-Awadi Raas-Rothschild syndrome (AARRS) supporting that "apparent" Phocomelia differentiates AARRS from Schinzel Phocomelia syndrome (SPS).
    AlQattan MM, AlAbdulkareem I, Ballow M, Al Balwi M.
    Gene; 2013 Sep 15; 527(1):371-5. PubMed ID: 23727605
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  • 4. Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation.
    Kantaputra PN, Kapoor S, Verma P, Kaewgahya M, Kawasaki K, Ohazama A, Ketudat Cairns JR.
    Eur J Med Genet; 2017 Dec 15; 60(12):695-700. PubMed ID: 28917830
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  • 5. A case of severe proximal focal femoral deficiency with overlapping phenotypes of Al-Awadi-Raas-Rothschild syndrome and Fuhrmann syndrome.
    Matsushita M, Kitoh H, Mishima K, Nishida Y, Ishiguro N.
    Pediatr Radiol; 2014 Dec 15; 44(12):1617-9. PubMed ID: 24839142
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  • 6. A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus.
    Mutlu MB, Cetinkaya A, Koc N, Ceylaner G, Erguner B, Aydın H, Karaman S, Demirci O, Goksu K, Karaman A.
    Eur J Med Genet; 2016 Nov 15; 59(11):604-606. PubMed ID: 27638328
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  • 7. Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome and WNT7A mutations: genetic homogeneity and nosological delineation.
    Garavelli L, Wischmeijer A, Rosato S, Gelmini C, Reverberi S, Sassi S, Ferrari A, Mari F, Zabel B, Lausch E, Unger S, Superti-Furga A.
    Am J Med Genet A; 2011 Feb 15; 155A(2):332-6. PubMed ID: 21271649
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  • 8. Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.
    Woods CG, Stricker S, Seemann P, Stern R, Cox J, Sherridan E, Roberts E, Springell K, Scott S, Karbani G, Sharif SM, Toomes C, Bond J, Kumar D, Al-Gazali L, Mundlos S.
    Am J Hum Genet; 2006 Aug 15; 79(2):402-8. PubMed ID: 16826533
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  • 10. A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families.
    Eyaid W, Al-Qattan MM, Al Abdulkareem I, Fetaini N, Al Balwi M.
    Am J Med Genet A; 2011 Mar 15; 155A(3):599-604. PubMed ID: 21344627
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  • 12. Familial aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits in an inbred Pakistani Muslim family: a possible new autosomal recessive disorder with overlapping manifestations of the syndromes of Fuhrmann, Al-Awadi, and Raas-Rothschild.
    Kumar D, Duggan MB, Mueller RF, Karbani G.
    Am J Med Genet; 1997 May 16; 70(2):107-13. PubMed ID: 9128926
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  • 13. Al-Awadi/Raas-Rothschild/Schinzel (AARRS) phocomelia syndrome: case report and developmental field analysis.
    Subhani M, Akangire G, Kulkarni A, Wilson GN.
    Am J Med Genet A; 2009 Jul 16; 149A(7):1494-8. PubMed ID: 19530188
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  • 17. Mutation of HOXA13 in hand-foot-genital syndrome.
    Mortlock DP, Innis JW.
    Nat Genet; 1997 Feb 16; 15(2):179-80. PubMed ID: 9020844
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  • 18. Congenital duplication of the palm syndrome: gene analysis and the molecular basis of its clinical features.
    Al-Qattan MM, Al-Balwi M, Eyaid W, Al-Abdulkarim I, Al-Turki S.
    J Hand Surg Eur Vol; 2009 Apr 16; 34(2):247-51. PubMed ID: 19282404
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