Raas-Rothschild A - Search Results

1

Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature.

Merdler-Rabinowicz R, Prat D, Pode-Shakked B, Abel G, Chorin O, Somech R, Raas-Rothschild A. Merdler-Rabinowicz R, et al. Eur J Med Genet. 2021 Jun;64(6):104210. doi: 10.1016/j.ejmg.2021.104210. Epub 2021 Mar 30. Eur J Med Genet. 2021. PMID: 33794347

2

Pathological features and prenatal diagnosis in the newly recognised limb/pelvis-hypoplasia/aplasia syndrome.

Raas-Rothschild A, Goodman RM, Meyer S, Katznelson MB, Winter ST, Gross E, Tamarkin M, Ben-Ami T, Nebel L, Mashiach S. Raas-Rothschild A, et al. J Med Genet. 1988 Oct;25(10):687-97. doi: 10.1136/jmg.25.10.687. J Med Genet. 1988. PMID: 3066902 Free PMC article. Review.

3

The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: report on two patients and review of the literature.

Raas-Rothschild A, Dijkhuizen T, Sikkema-Raddatz B, Werner M, Dagan J, Abeliovich D, Lerer I. Raas-Rothschild A, et al. Eur J Med Genet. 2009 Mar-Jun;52(2-3):140-4. doi: 10.1016/j.ejmg.2009.03.011. Epub 2009 Mar 26. Eur J Med Genet. 2009. PMID: 19328248 Review.

4

Combined immunodeficiency in a patient with mosaic monosomy 21.

Rechavi E, Levy-Mendelovich S, Stauber T, Shamash J, Reinstein S, Vernitsky H, Adam D, Simon AJ, Lev A, Raas-Rothschild A, Somech R. Rechavi E, et al. Immunol Res. 2016 Aug;64(4):841-7. doi: 10.1007/s12026-016-8803-0. Immunol Res. 2016. PMID: 27216863

5

Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy.

Pode-Shakked B, Barash H, Ziv L, Gripp KW, Flex E, Barel O, Carvalho KS, Scavina M, Chillemi G, Niceta M, Eyal E, Kol N, Ben-Zeev B, Bar-Yosef O, Marek-Yagel D, Bertini E, Duker AL, Anikster Y, Tartaglia M, Raas-Rothschild A. Pode-Shakked B, et al. Clin Genet. 2017 May;91(5):725-738. doi: 10.1111/cge.12914. Epub 2016 Dec 16. Clin Genet. 2017. PMID: 27807845

6

Elucidating the behavioral phenotype of patients affected with mucolipidosis IV: What can we learn from the parents?

Segal P, Pode-Shakked B, Raas-Rothschild A. Segal P, et al. Eur J Med Genet. 2017 Jun;60(6):340-344. doi: 10.1016/j.ejmg.2017.04.005. Epub 2017 Apr 6. Eur J Med Genet. 2017. PMID: 28392473

7

Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.

Vivante A, Ityel H, Pode-Shakked B, Chen J, Shril S, van der Ven AT, Mann N, Schmidt JM, Segel R, Aran A, Zeharia A, Staretz-Chacham O, Bar-Yosef O, Raas-Rothschild A, Landau YE, Lifton RP, Anikster Y, Hildebrandt F. Vivante A, et al. Pediatr Nephrol. 2017 Dec;32(12):2273-2282. doi: 10.1007/s00467-017-3755-8. Epub 2017 Aug 5. Pediatr Nephrol. 2017. PMID: 28779239 Free PMC article.

8

LMOD3-Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings.

Berkenstadt M, Pode-Shakked B, Barel O, Barash H, Achiron R, Gilboa Y, Kidron D, Raas-Rothschild A. Berkenstadt M, et al. J Ultrasound Med. 2018 Jul;37(7):1827-1833. doi: 10.1002/jum.14520. Epub 2018 Jan 13. J Ultrasound Med. 2018. PMID: 29331079

9

Phenotype variability in Hajdu-Cheney syndrome.

Regev M, Pode-Shakked B, Jacobson JM, Raas-Rothschild A, Goldstein DB, Anikster Y. Regev M, et al. Eur J Med Genet. 2019 Jan;62(1):35-38. doi: 10.1016/j.ejmg.2018.04.015. Epub 2018 Apr 23. Eur J Med Genet. 2019. PMID: 29698804

10

Diaphanospondylodysostosis: Refining the prenatal diagnosis of a rare skeletal disorder.

Greenbaum L, Gilboa Y, Raas-Rothschild A, Barel O, Kol N, Reznik-Wolf H, Pode-Shakked B, Finezilber Y, Messing B, Berkenstadt M. Greenbaum L, et al. Eur J Med Genet. 2019 Mar;62(3):167-171. doi: 10.1016/j.ejmg.2018.07.004. Epub 2018 Jul 10. Eur J Med Genet. 2019. PMID: 30006055

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