Similar articles for PMID: 21344627

Year	Number of Results
1988	1
1993	1
1995	2
1997	1
1999	1
2000	2
2001	2
2003	1
2004	4
2005	5
2006	4
2007	5
2008	4
2009	6
2010	7
2011	6
2012	6
2013	10
2014	11
2015	5
2016	5
2017	2
2018	6
2019	4
2020	4
2022	3
2024	0

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. Eyaid W, et al. Am J Med Genet A. 2011 Mar;155A(3):599-604. doi: 10.1002/ajmg.a.33717. Epub 2011 Feb 22. Am J Med Genet A. 2011. 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. Kantaputra PN, et al. Am J Med Genet A. 2010 Nov;152A(11):2832-7. doi: 10.1002/ajmg.a.33673. Am J Med Genet A. 2010. 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. AlQattan MM, et al. Gene. 2013 Sep 15;527(1):371-5. doi: 10.1016/j.gene.2013.05.023. Epub 2013 May 30. Gene. 2013. 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. Woods CG, et al. Am J Hum Genet. 2006 Aug;79(2):402-8. doi: 10.1086/506332. Epub 2006 Jun 23. Am J Hum Genet. 2006. PMID: 16826533 Free PMC article.

5

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. Kantaputra PN, et al. Eur J Med Genet. 2017 Dec;60(12):695-700. doi: 10.1016/j.ejmg.2017.09.005. Epub 2017 Sep 14. Eur J Med Genet. 2017. PMID: 28917830

6

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

Al-Qattan MM, Shamseldin HE, Alkuraya FS. Al-Qattan MM, et al. Gene. 2013 Mar 1;516(1):168-70. doi: 10.1016/j.gene.2012.12.020. Epub 2012 Dec 21. Gene. 2013. PMID: 23266637

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. Mutlu MB, et al. Eur J Med Genet. 2016 Nov;59(11):604-606. doi: 10.1016/j.ejmg.2016.09.009. Epub 2016 Sep 13. Eur J Med Genet. 2016. PMID: 27638328

8

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. Alves LU, et al. J Hum Genet. 2017 Dec;62(12):1073-1078. doi: 10.1038/jhg.2017.86. Epub 2017 Aug 31. J Hum Genet. 2017. PMID: 28855715

9

Molecular basis of the clinical features of Al-Awadi-Raas-Rothschild (limb/pelvis/uterus-hypoplasia/aplasia) syndrome (AARRS) and Fuhrmann syndrome.

Al-Qattan MM. Al-Qattan MM. Am J Med Genet A. 2013 Sep;161A(9):2274-80. doi: 10.1002/ajmg.a.35437. Epub 2013 Aug 6. Am J Med Genet A. 2013. PMID: 23922166 Review.

10

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

Schüle B, Oviedo A, Johnston K, Pai S, Francke U. Schüle B, et al. Am J Hum Genet. 2005 Dec;77(6):1117-28. doi: 10.1086/498695. Epub 2005 Oct 31. Am J Hum Genet. 2005. PMID: 16380922 Free PMC article.

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