Melançon S - Search Results

1

Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype.

Al-Thihli K, Rudkin T, Carson N, Poulin C, Melançon S, Der Kaloustian VM. Al-Thihli K, et al. Among authors: melancon s. Am J Med Genet A. 2008 Sep 15;146A(18):2412-6. doi: 10.1002/ajmg.a.32456. Am J Med Genet A. 2008. PMID: 18698610

2

Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.

Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melançon S, Anastasio N, Ha KC, Majewski J, Rosenblatt DS, Braverman N. Alfares A, et al. Among authors: melancon s. J Med Genet. 2011 Sep;48(9):602-5. doi: 10.1136/jmedgenet-2011-100230. Epub 2011 Jul 23. J Med Genet. 2011. PMID: 21785126

3

A de novo 2.1-Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features.

Der Kaloustian VM, Russell L, Aradhya S, Richard G, Rosenblatt B, Melançon S. Der Kaloustian VM, et al. Among authors: melancon s. Am J Med Genet A. 2011 Oct;155A(10):2538-42. doi: 10.1002/ajmg.a.34198. Am J Med Genet A. 2011. PMID: 22043489

4

Friedreich ataxia in Acadian families from eastern Canada: clinical diversity with conserved haplotypes.

Richter A, Poirier J, Mercier J, Julien D, Morgan K, Roy M, Gosselin F, Bouchard JP, Melançon SB. Richter A, et al. Among authors: melancon sb. Am J Med Genet. 1996 Sep 6;64(4):594-601. doi: 10.1002/(SICI)1096-8628(19960906)64:4<594::AID-AJMG13>3.0.CO;2-C. Am J Med Genet. 1996. PMID: 8870928

5

The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada.

Hechtman P, Boulay B, De Braekeleer M, Andermann E, Melançon S, Larochelle J, Prevost C, Kaplan F. Hechtman P, et al. Among authors: melancon s. Hum Genet. 1992 Dec;90(4):402-6. doi: 10.1007/BF00220467. Hum Genet. 1992. PMID: 1483696

6

Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment.

Janssens K, Vanhoenacker F, Bonduelle M, Verbruggen L, Van Maldergem L, Ralston S, Guañabens N, Migone N, Wientroub S, Divizia MT, Bergmann C, Bennett C, Simsek S, Melançon S, Cundy T, Van Hul W. Janssens K, et al. Among authors: melancon s. J Med Genet. 2006 Jan;43(1):1-11. doi: 10.1136/jmg.2005.033522. Epub 2005 May 13. J Med Genet. 2006. PMID: 15894597 Free PMC article. Review.

7

More than one mutant allele causes infantile Tay-Sachs disease in French-Canadians.

Hechtman P, Kaplan F, Bayleran J, Boulay B, Andermann E, de Braekeleer M, Melançon S, Lambert M, Potier M, Gagné R, et al. Hechtman P, et al. Among authors: melancon s. Am J Hum Genet. 1990 Nov;47(5):815-22. Am J Hum Genet. 1990. PMID: 2220821 Free PMC article.

8

FOXE3 plays a significant role in autosomal recessive microphthalmia.

Reis LM, Tyler RC, Schneider A, Bardakjian T, Stoler JM, Melancon SB, Semina EV. Reis LM, et al. Am J Med Genet A. 2010 Mar;152A(3):582-90. doi: 10.1002/ajmg.a.33257. Am J Med Genet A. 2010. PMID: 20140963 Free PMC article.

9

Clinical spectrum of infantile free sialic acid storage disease.

Lemyre E, Russo P, Melançon SB, Gagné R, Potier M, Lambert M. Lemyre E, et al. Among authors: melancon sb. Am J Med Genet. 1999 Feb 19;82(5):385-91. Am J Med Genet. 1999. PMID: 10069709 Review.

10

Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea.

Janecke AR, Heinz-Erian P, Yin J, Petersen BS, Franke A, Lechner S, Fuchs I, Melancon S, Uhlig HH, Travis S, Marinier E, Perisic V, Ristic N, Gerner P, Booth IW, Wedenoja S, Baumgartner N, Vodopiutz J, Frechette-Duval MC, De Lafollie J, Persad R, Warner N, Tse CM, Sud K, Zachos NC, Sarker R, Zhu X, Muise AM, Zimmer KP, Witt H, Zoller H, Donowitz M, Müller T. Janecke AR, et al. Among authors: melancon s. Hum Mol Genet. 2015 Dec 1;24(23):6614-23. doi: 10.1093/hmg/ddv367. Epub 2015 Sep 10. Hum Mol Genet. 2015. PMID: 26358773 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

144 results

Search Page