Babul-Hirji R - Search Results

1

Middle and inner ear malformations in mutation-proven branchio-oculo-facial (BOF) syndrome: case series and review of the literature.

Carter MT, Blaser S, Papsin B, Meschino W, Reardon W, Klatt R, Babul-Hirji R, Milunsky J, Chitayat D. Carter MT, et al. Am J Med Genet A. 2012 Aug;158A(8):1977-81. doi: 10.1002/ajmg.a.35436. Epub 2012 Jun 18. Am J Med Genet A. 2012. PMID: 22711382 Review.

2

Normal external genitalia in a female with classical congenital adrenal hyperplasia who was not treated during embryogenesis.

Quercia N, Chitayat D, Babul-Hirji R, New MI, Daneman D. Quercia N, et al. Prenat Diagn. 1998 Jan;18(1):83-5. doi: 10.1002/(sici)1097-0223(199801)18:1<83::aid-pd219>3.0.co;2-u. Prenat Diagn. 1998. PMID: 9483646

3

Brachydactyly type B: clinical description, genetic mapping to chromosome 9q, and evidence for a shared ancestral mutation.

Gong Y, Chitayat D, Kerr B, Chen T, Babul-Hirji R, Pal A, Reiss M, Warman ML. Gong Y, et al. Am J Hum Genet. 1999 Feb;64(2):570-7. doi: 10.1086/302249. Am J Hum Genet. 1999. PMID: 9973295 Free PMC article.

4

Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.

Gong Y, Krakow D, Marcelino J, Wilkin D, Chitayat D, Babul-Hirji R, Hudgins L, Cremers CW, Cremers FP, Brunner HG, Reinker K, Rimoin DL, Cohn DH, Goodman FR, Reardon W, Patton M, Francomano CA, Warman ML. Gong Y, et al. Nat Genet. 1999 Mar;21(3):302-4. doi: 10.1038/6821. Nat Genet. 1999. PMID: 10080184

5

Genetic counselling in prenatally diagnosed non-chromosomal fetal abnormalities.

Chitayat D, Babul-Hirji R. Chitayat D, et al. Curr Opin Obstet Gynecol. 2000 Apr;12(2):77-80. doi: 10.1097/00001703-200004000-00004. Curr Opin Obstet Gynecol. 2000. PMID: 10813567 Review.

6

First-trimester increased nuchal translucency and fetal hypokinesia associated with Zellweger syndrome.

Johnson JM, Babul-Hirji R, Chitayat D. Johnson JM, et al. Ultrasound Obstet Gynecol. 2001 Apr;17(4):344-6. doi: 10.1046/j.1469-0705.2001.00320.x. Ultrasound Obstet Gynecol. 2001. PMID: 11339194 Free article.

7

Cavum veli interpositi: prenatal diagnosis and postnatal outcome.

Shah PS, Blaser S, Toi A, Fong K, Glanc P, Babul-Hirji R, Rutka J, Chitayat D. Shah PS, et al. Prenat Diagn. 2005 Jul;25(7):539-42. doi: 10.1002/pd.1114. Prenat Diagn. 2005. PMID: 16034837

8

A novel GDAP1 mutation 439delA is associated with autosomal recessive CMT disease.

Georgiou DM, Nicolaou P, Chitayat D, Koutsou P, Babul-Hirji R, Vajsar J, Murphy J, Christodoulou K. Georgiou DM, et al. Can J Neurol Sci. 2006 Aug;33(3):311-6. doi: 10.1017/s0317167100005199. Can J Neurol Sci. 2006. PMID: 17001820

9

Long QT, syndactyly, joint contractures, stroke and novel CACNA1C mutation: expanding the spectrum of Timothy syndrome.

Gillis J, Burashnikov E, Antzelevitch C, Blaser S, Gross G, Turner L, Babul-Hirji R, Chitayat D. Gillis J, et al. Am J Med Genet A. 2012 Jan;158A(1):182-7. doi: 10.1002/ajmg.a.34355. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22106044 Free PMC article.

10

Mutations in EZH2 cause Weaver syndrome.

Gibson WT, Hood RL, Zhan SH, Bulman DE, Fejes AP, Moore R, Mungall AJ, Eydoux P, Babul-Hirji R, An J, Marra MA; FORGE Canada Consortium; Chitayat D, Boycott KM, Weaver DD, Jones SJ. Gibson WT, et al. Am J Hum Genet. 2012 Jan 13;90(1):110-8. doi: 10.1016/j.ajhg.2011.11.018. Epub 2011 Dec 15. Am J Hum Genet. 2012. PMID: 22177091 Free PMC article.

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