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Items: 1 to 20 of 113

1.

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;155A(3):599-604. doi: 10.1002/ajmg.a.33717. Epub 2011 Feb 22.

PMID:
21344627
2.

A novel homozygous Arg222Trp missense mutation in WNT7A in two sisters with severe Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.

Kantaputra PN, Mundlos S, Sripathomsawat W.

Am J Med Genet A. 2010 Nov;152A(11):2832-7. doi: 10.1002/ajmg.a.33673.

PMID:
20949531
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. doi: 10.1016/j.gene.2013.05.023. Epub 2013 May 30.

PMID:
23727605
4.

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;79(2):402-8. Epub 2006 Jun 23.

5.

The WNT7A G204S mutation is associated with both Al-Awadi-Raas Rothschild syndrome and Fuhrmann syndrome phenotypes.

Al-Qattan MM, Shamseldin HE, Alkuraya FS.

Gene. 2013 Mar 1;516(1):168-70. doi: 10.1016/j.gene.2012.12.020. Epub 2012 Dec 21.

PMID:
23266637
6.

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;60(12):695-700. doi: 10.1016/j.ejmg.2017.09.005. Epub 2017 Sep 14.

PMID:
28917830
7.

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;59(11):604-606. doi: 10.1016/j.ejmg.2016.09.009. Epub 2016 Sep 13.

PMID:
27638328
8.

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. doi: 10.1002/ajmg.a.35437. Epub 2013 Aug 6. Review.

PMID:
23922166
9.

Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.

Schüle B, Oviedo A, Johnston K, Pai S, Francke U.

Am J Hum Genet. 2005 Dec;77(6):1117-28. Epub 2005 Oct 31.

10.

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;149A(7):1494-8. doi: 10.1002/ajmg.a.32890.

PMID:
19530188
11.

Al-Awadi/Raas-Rothschild syndrome: two new cases and review.

Lonardo F, Sabba G, Luquetti DV, Monica MD, Scarano G.

Am J Med Genet A. 2007 Dec 15;143A(24):3169-74.

PMID:
17431918
12.

Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family.

Niemann S, Zhao C, Pascu F, Stahl U, Aulepp U, Niswander L, Weber JL, Müller U.

Am J Hum Genet. 2004 Mar;74(3):558-63. Epub 2004 Feb 5.

13.

WNT10A missense mutation associated with a complete odonto-onycho-dermal dysplasia syndrome.

Nawaz S, Klar J, Wajid M, Aslam M, Tariq M, Schuster J, Baig SM, Dahl N.

Eur J Hum Genet. 2009 Dec;17(12):1600-5. doi: 10.1038/ejhg.2009.81. Epub 2009 May 27.

14.

Limb/pelvis hypoplasia/aplasia with skull defect (Schinzel phocomelia): distinctive features and prenatal detection.

Olney RS, Hoyme HE, Roche F, Ferguson K, Hintz S, Madan A.

Am J Med Genet. 2001 Nov 1;103(4):295-301.

PMID:
11746009
15.

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;155A(2):332-6. doi: 10.1002/ajmg.a.33793. Epub 2010 Dec 22. No abstract available.

PMID:
21271649
16.

Expanding the mutation and clinical spectrum of Roberts syndrome.

Afifi HH, Abdel-Salam GM, Eid MM, Tosson AM, Shousha WG, Abdel Azeem AA, Farag MK, Mehrez MI, Gaber KR.

Congenit Anom (Kyoto). 2016 Jul;56(4):154-62. doi: 10.1111/cga.12151.

PMID:
26710928
17.

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;44(12):1617-9. doi: 10.1007/s00247-014-3013-1. Epub 2014 May 18.

PMID:
24839142
18.

Santos syndrome is caused by mutation in the WNT7A gene.

Alves LU, Santos S, Musso CM, Ezquina SA, Opitz JM, Kok F, Otto PA, Mingroni-Netto RC.

J Hum Genet. 2017 Dec;62(12):1073-1078. doi: 10.1038/jhg.2017.86. Epub 2017 Aug 31.

PMID:
28855715
19.

New autosomal recessive form of amelia.

Michaud J, Filiatrault D, Dallaire L, Lambert M.

Am J Med Genet. 1995 Mar 27;56(2):164-7. Review.

PMID:
7625439
20.

A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome.

Faiyaz-Ul-Haque M, Zaidi SH, Al-Sanna N, Alswaid A, Momenah T, Kaya N, Al-Dayel F, Bouhoaigah I, Saliem M, Tsui LC, Teebi AS.

Atherosclerosis. 2009 Apr;203(2):466-71. doi: 10.1016/j.atherosclerosis.2008.07.026. Epub 2008 Aug 5.

PMID:
18774132

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