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1

A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome

Brown, Carolyn J., Ballabio, Andrea, Rupert, James L., Lafreniere, Ronald G., Grompe, Markus, Tonlorenzi, Rossana, Willard, Huntington F.

Journal:

Year:

1991

File:

PDF, 1.04 MB

1991

2

Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS)

Patrick Cossette, Andrew Loukas, Ronald G. Lafrenière, Daniel Rochefort, Eric Harvey-Girard, David S. Ragsdale, Robert J. Dunn, Guy A. Rouleau

Journal:

Epilepsy Research

Year:

2003

Language:

english

File:

PDF, 205 KB

english, 2003

3

Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia

Julie Gauthier, Tabrez J. Siddiqui, Peng Huashan, Daisaku Yokomaku, Fadi F. Hamdan, Nathalie Champagne, Mathieu Lapointe, Dan Spiegelman, Anne Noreau, Ronald G. Lafrenière, Ferid Fathalli, Ridha Joobe

Journal:

Year:

2011

Language:

english

File:

PDF, 2.21 MB

english, 2011

4

Localization of the X inactivation centre on the human X chromosome in Xq13

Brown, Carolyn J., Lafreniere, Ronald G., Powers, Vicki E., Sebastio, Gianfranco, Ballabio, Andrea, Pettigrew, Anjana L., Ledbetter, David H., Levy, Elaine, Craig, Ian W., Willard, Huntington F.

Journal:

Year:

1991

File:

PDF, 527 KB

1991

5

De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment

Fadi F. Hamdan, Hussein Daoud, Daniel Rochefort, Amélie Piton, Julie Gauthier, Mathieu Langlois, Gila Foomani, Sylvia Dobrzeniecka, Marie-Odile Krebs, Ridha Joober, Ronald G. Lafrenière, Jean-Claude L

Journal:

The American Journal of Human Genetics

Year:

2010

Language:

english

File:

PDF, 670 KB

english, 2010

6

Genomic structure of the human GT334 (EHOC-1) gene mapping to 21q22.3

Ronald G. Lafrenière, Zoha Kibar, Daniel L. Rochefort, Fei-Yu Han, Edward A. Fon, Marie-Pierre Dubé, Xiaolin Kang, Stephen Baird, Robert G. Korneluk, Johanna M. Rommens, Guy A. Rouleau

Journal:

Year:

1997

Language:

english

File:

PDF, 636 KB

english, 1997

7

Theophylline-induced potentiation of estrogen action

Ronald T. Lafreniere, Radhey L. Singhal

Journal:

Year:

1971

Language:

english

File:

PDF, 292 KB

english, 1971

8

Migraine: Role of the TRESK two-pore potassium channel

Ronald G. Lafrenière, Guy A. Rouleau

Journal:

The International Journal of Biochemistry & Cell Biology

Year:

2011

Language:

english

File:

PDF, 478 KB

english, 2011

9

Low-density addressable array for the detection and typing of the human papillomavirus

Susie A. Delrio-Lafreniere, Megan K. Browning, Ronald C. McGlennen

Journal:

Diagnostic Microbiology and Infectious Disease

Year:

2004

Language:

english

File:

PDF, 379 KB

english, 2004

10

An 18-locus linkage map of the pericentromeric region of the human X chromosome: Genetic framework for mapping X-linked disorders

Mahtani, Melanie M., Lafrenière, Ronald G., Kruse, Torben A., Willard, Huntington F.

Journal:

Year:

1991

Language:

english

File:

PDF, 944 KB

english, 1991

11

The human XIST gene: Analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus

Carolyn J. Brown, Brian D. Hendrich, Jim L. Rupert, Ronald G. Lafrenière, Yigong Xing, Jeanne Lawrence, Huntington F. Willard

Journal:

Year:

1992

Language:

english

File:

PDF, 4.11 MB

english, 1992

12

Analysis of microsatellite markers and single nucleotide polymorphisms in candidate genes for susceptibility to bipolar affective disorder in the chromosome 12Q24.31 region

Eric Shink, Mario Harvey, Monique Tremblay, Bernard Gagné, Pascal Belleau, Catherine Raymond, Michel Labbé, Marie-Pierre Dubé, Ronald G. Lafrenière, Nicholas Barden

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2005

Language:

english

File:

PDF, 115 KB

english, 2005

13

Ornithine aminotransferase-related sequences map to two nonadjacent intervals on the human X chromosome short arm

Lafreniere, Ronald G., Geraghty, Michael T., Valle, David, Shows, Thomas B., Willard, Huntington F.

Journal:

Year:

1991

Language:

english

File:

PDF, 2.17 MB

english, 1991

14

Functional analysis of missense variants in the TRESK (KCNK18) K+ channel

Andres-Enguix, Isabelle, Shang, Lijun, Stansfeld, Phillip J., Morahan, Julia M., Sansom, Mark S. P., Lafrenière, Ronald G., Roy, Bishakha, Griffiths, Lyn R., Rouleau, Guy A., Ebers, George C., Cader,

Journal:

Scientific Reports

Year:

2012

Language:

english

File:

PDF, 775 KB

english, 2012

15

De novo mutations in the gene encoding the synaptic scaffolding proteinSHANK3in patients ascertained for schizophrenia

Julie Gauthier, Nathalie Champagne, Ronald G. Lafrenière, Lan Xiong, Dan Spiegelman, Edna Brustein, Mathieu Lapointe, Huashan Peng, Mélanie Côté, Anne Noreau, Fadi F. Hamdan, Anjené M. Addington, Judi

Journal:

Proceedings of the National Academy of Sciences

Year:

2010

Language:

english

File:

PDF, 1.54 MB

english, 2010

16

WNK1/HSN2 Mutation in Human Peripheral Neuropathy Deregulates KCC2 Expression and Posterior Lateral Line Development in Zebrafish (Danio rerio)

Bercier, Valérie, Brustein, Edna, Liao, Meijiang, Dion, Patrick A., Lafrenière, Ronald G., Rouleau, Guy A., Drapeau, Pierre, Orr, Harry T.

Journal:

Year:

2013

Language:

english

File:

PDF, 4.30 MB

english, 2013

17

Novel de novo SHANK3 mutation in autistic patients

Julie Gauthier, Dan Spiegelman, Amélie Piton, Ronald G. Lafrenière, Sandra Laurent, Judith St-Onge, Line Lapointe, Fadi F. Hamdan, Patrick Cossette, Laurent Mottron, Éric Fombonne, Ridha Joober, Claud

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2009

Language:

english

File:

PDF, 207 KB

english, 2009

18

A Radiation Hybrid Map of 48 Loci Including the Clouston Hidrotic Ectodermal Dysplasia Locus in the Pericentromeric Region of Chromosome 13q

Zoha Kibar, Ronald G. Lafrenière, Aravinda Chakravarti, Jia-Chi Wang, Mario Chevrette, Vazken M. Der Kaloustian, Guy A. Rouleau

Journal:

Year:

1999

Language:

english

File:

PDF, 59 KB

english, 1999

19

Unstable insertion in the 5′ flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1

Lafreniére, Ronald G., Rochefort, Daniel L., Chrétien, Nathalie, Rommens, Johanna M., Cochius, Jeffrey I., Kälviäinen, Reetta, Nousiainen, Unto, Patry, George, Farrell, Kevin, Söderfeldt, Birgitta

Journal:

Nature Genetics

Year:

1997

File:

PDF, 826 KB

1997

20

Family-based exome-sequencing approach identifies rare susceptibility variants for lithium-responsive bipolar disorder 1

Cruceanu, Cristiana, Ambalavanan, Amirthagowri, Spiegelman, Dan, Gauthier, Julie, Lafrenière, Ronald G., Dion, Patrick A., Alda, Martin, Turecki, Gustavo, Rouleau, Guy A., Scherer, Steve

Journal:

Year:

2013

File:

PDF, 1.10 MB

2013

21

Linkage of the multiple endocrine neoplasia type 2B gene (MEN2B) to chromosome 10 markers linked to MEN2A

Norum, Robert A., Lafreniere, Ronald G., O'Neal, Lawrence W., Nikolai, Thomas F., Delaney, J.P., Sisson, James C., Sobol, Hagay, Lenoir, Gilbert M., Ponder, Bruce A.J., Willard, Huntington F., Jackson

Journal:

Year:

1990

Language:

english

File:

PDF, 563 KB

english, 1990

22

Des mutations dans l’exon HSN2 du gène WNK1 causent la neuropathie héréditaire sensitive et autonomique de type 2

Rivière, Jean-Baptiste, Dion, Patrick, Shekarabi, Masoud, Girard, Nathalie, Faivre, Laurence, Lafrenière, Ronald G., Samuels, Mark, Rouleau, Guy A.

Journal:

médecine/sciences

Year:

2009

Language:

french

File:

PDF, 151 KB

french, 2009

23

Pulsed-Field Map of Xq13 in the Region of the Human X Inactivation Center

Ronald G. Lafrenière, Huntington F. Willard

Journal:

Year:

1993

File:

PDF, 340 KB

1993

24

Refined localization of human connexin32 gene locus, GJB1, to Xq13.1

Corcos, Isabel A., Lafrenière, Ronald G., Begy, Catherine R., Loch-Caruso, Rita, Willard, Huntington F., Glover, Thomas W.

Journal:

Year:

1992

Language:

english

File:

PDF, 626 KB

english, 1992

25

Notes, Short Comments, and Answers to Correspondents.

Norum, Robert A., Lafreniere, Ronald G., O'Neal, Lawrence W., Nikolai, Thomas F., Delaney, J.P., Sisson, James C., Sobol, Hagay, Lenoir, Gilbert M., Ponder, Bruce A.J., Willard, Huntington F., Jackson

Journal:

Year:

1876

Language:

english

File:

PDF, 878 KB

english, 1876

26

A mutation in the HSN2 gene causes sensory neuropathy type II in a Lebanese family

Jean-Baptiste Rivière, Dominique J. Verlaan, Masoud Shekarabi, Ronald G. Lafrenière, Mélanie Bénard, Vazken M. Der Kaloustian, Zuhayr Shbaklo, Guy A. Rouleau

Journal:

Annals of Neurology

Year:

2004

Language:

english

File:

PDF, 131 KB

english, 2004

27

A dominant-negative mutation in the TRESK potassium channel is linked to familial migraine with aura

Lafrenière, Ronald G, Cader, M Zameel, Poulin, Jean-François, Andres-Enguix, Isabelle, Simoneau, Maryse, Gupta, Namrata, Boisvert, Karine, Lafrenière, François, McLaughlan, Shannon, Dubé, Marie-Pierre

Journal:

Nature Medicine

Year:

2010

Language:

english

File:

PDF, 1.09 MB

english, 2010

28

Identification of Novel Genes Involved in Migraine

Ronald G. Lafrenière, Guy A. Rouleau

Journal:

Headache: The Journal of Head and Face Pain

Year:

2012

Language:

english

File:

PDF, 55 KB

english, 2012

29

Physical mapping of 60 DNA markers in the p21.1 → q21.3 region of the human X chromosome

Lafrenière, Ronald G., Brown, Carolyn J., Powers, Vicki E., Carrel, Laura, Davies, Kay E., Barker, David F., Willard, Huntington F.

Journal:

Year:

1991

Language:

english

File:

PDF, 2.11 MB

english, 1991

30

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

Gauthier, Julie, Champagne, Nathalie, Lafrenière, Ronald G., Xiong, Lan, Spiegelman, Dan, Brustein, Edna, Lapointe, Mathieu, Peng, Huashan, Côté, Mélanie, Noreau, Anne, Hamdan, Fadi F., Addington, Anj

Journal:

Proceedings of the National Academy of Sciences

Year:

2010

Language:

english

File:

PDF, 544 KB

english, 2010

31

A 405-kb Cosmid Contig and HindIII Restriction Map of the Progressive Myoclonus Epilepsy Type 1 (EPM1) Candidate Region in 21q22.3

Ronald G. Lafrenière, Pieter J. de Jong, Guy A. Rouleau

Journal:

Year:

1995

File:

PDF, 192 KB

1995

32

Identification of a Novel Gene (HSN2) Causing Hereditary Sensory and Autonomic Neuropathy Type II through the Study of Canadian Genetic Isolates

Ronald G. Lafrenière, Marcia L.E. MacDonald, Marie-Pierre Dubé, Julie MacFarlane, Mary O’Driscoll, Bernard Brais, Sébastien Meilleur, Ryan R. Brinkman, Owen Dadivas, Terry Pape, Christèle Platon, Chri

Journal:

The American Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 674 KB

english, 2004

33

Simultaneous Allele-specific Amplification: A Strategy Using Modified Primer-template Mismatches for SNP Detection—Application to Prothrombin 20210A (Factor II) and Factor V Leiden (1691A) Gene Mutations

Susie A. Delrio-Lafreniere MS,Ronald C. McGlennen MD

Journal:

Molecular Diagnosis & Therapy

Year:

2001

Language:

english

File:

PDF, 1.94 MB

english, 2001

34

No Association Between SRGAP3/MEGAP Haploinsufficiency and Mental Retardation

Hamdan, Fadi F., Gauthier, Julie, Pellerin, Stéphanie, Dobrzeniecka, Sylvia, Marineau, Claude, Fombonne, Éric, Mottron, Laurent, Lafrenière, Ronald G., Drapeau, Pierre, Lacaille, Jean Claude, Rouleau,

Journal:

Archives of Neurology

Year:

2009

Language:

english

File:

PDF, 117 KB

english, 2009

35

HFE, SLC40A1, HAMP, HJV, TFR2, and FTL mutations detected by denaturing high-performance liquid chromatography after iron phenotyping and HFE C282Y and H63D genotyping in 785 HEIRS Study participants

James C. Barton, Susie A. LaFreniere, Catherine Leiendecker-Foster, Honggui Li, Ronald T. Acton, Richard D. Press, John H. Eckfeldt

Journal:

American Journal of Hematology

Year:

2009

Language:

english

File:

PDF, 163 KB

english, 2009

36

A novel transmembrane transporter encoded by the XPCT gene in Xq13.2

Lafrenière, Ronald G., Carrel, Laura, Willard, Huntington F.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 3.51 MB

english, 1994

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