26544544 17431918 12100428 7740003 9128926 8740915 22519493 23727605 21274338 8291563 27273803 15124194 19530188 19650417 23091259 11746009 18710560 - Search Results

Year	Number of Results
1993	1
1995	1
1996	1
1997	1
2001	1
2002	1
2004	1
2007	1
2008	1
2009	2
2010	1
2012	2
2013	1
2015	1
2016	2
2022	0

1

Isolated bilateral transverse agenesis of the distal segments of the lower limbs at the level of the knee joint in a human fetus.

Christiaens AB, Deprez PML, Amyere M, Mendola A, Bernard P, Gillerot Y, Clapuyt P, Godfraind C, Lengelé BG, Vikkula M, Nyssen-Behets C. Christiaens AB, et al. Am J Med Genet A. 2016 Feb;170A(2):523-530. doi: 10.1002/ajmg.a.37462. Epub 2015 Nov 6. Am J Med Genet A. 2016. PMID: 26544544

2

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

Lonardo F, Sabba G, Luquetti DV, Monica MD, Scarano G. Lonardo F, et al. Am J Med Genet A. 2007 Dec 15;143A(24):3169-74. doi: 10.1002/ajmg.a.31712. Am J Med Genet A. 2007. PMID: 17431918

3

Prenatal diagnosis of acrania associated with facial defects, amniotic bands and limb-body wall complex.

Chen CP, Tzen CY, Chang TY, Yeh LF, Wang W. Chen CP, et al. Ultrasound Obstet Gynecol. 2002 Jul;20(1):94-5. doi: 10.1046/j.1469-0705.2002.00722_1.x. Ultrasound Obstet Gynecol. 2002. PMID: 12100428 Free article. No abstract available.

4

Exencephaly in autosomal dominant brachydactyly syndrome.

Stagiannis KD, Sepulveda W, Fusi L, Garrett C, Fisk NM. Stagiannis KD, et al. Prenat Diagn. 1995 Jan;15(1):70-3. doi: 10.1002/pd.1970150115. Prenat Diagn. 1995. PMID: 7740003

5

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. Kumar D, et al. Am J Med Genet. 1997 May 16;70(2):107-13. Am J Med Genet. 1997. PMID: 9128926

6

Phocomelia, ectrodactyly, skull defect and urinary system anomaly: Schinzel-phocomelia syndrome?

Evliyaoğlu N, Temoçin AK, Altintaş DU, Duman N, Satar N, Süleymanova D. Evliyaoğlu N, et al. Clin Genet. 1996 Feb;49(2):70-3. doi: 10.1111/j.1399-0004.1996.tb04330.x. Clin Genet. 1996. PMID: 8740915

7

Acrania associated with amniotic bands in a fetus.

He P, Yang Y, Li DZ. He P, et al. J Obstet Gynaecol. 2012 May;32(4):397-8. doi: 10.3109/01443615.2012.656742. J Obstet Gynaecol. 2012. PMID: 22519493 No abstract available.

8

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

9

Al-Awadi/Raas-Rothschild syndrome in a newborn with additional anomalies.

Alp E, Alp H, Atabek ME, Pirgon Ö. Alp E, et al. J Clin Res Pediatr Endocrinol. 2010;2(1):49-51. doi: 10.4274/jcrpe.v2i1.49. Epub 2010 Feb 9. J Clin Res Pediatr Endocrinol. 2010. PMID: 21274338 Free PMC article.

10

On the nosology of the "Schinzel-phocomelia" and "Al-Awadi/Raas-Rothschield" syndromes.

Lurie IW, Wulfsberg EA. Lurie IW, et al. Am J Med Genet. 1993 Dec 1;47(8):1234. doi: 10.1002/ajmg.1320470823. Am J Med Genet. 1993. PMID: 8291563 No abstract available.

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