Lemire, Edmond G: search on Z-Library

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1

Novel mutations and polymorphisms in genes causing hereditary hemorrhagic telangiectasia

Salma A. Abdalla, Urszula Cymerman, Diane Rushlow, Ning Chen, Gwendolyn P. Stoeber, Edmond G. Lemire, Michelle Letarte

Journal:

Year:

2005

Language:

english

File:

PDF, 71 KB

english, 2005

2

A novel keratin 10 gene mutation causing epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma) in a term neonate

Pegu, Satyaranjan, Bodani, Jaya. P., Lemire, Edmond G., Holfeld, Karen I.

Journal:

Case Reports in Perinatal Medicine

Year:

2017

Language:

english

File:

PDF, 1.40 MB

english, 2017

3

Response to correspondence of NDUFS4-related Leigh syndrome in Hutterites

Lamont, Ryan E., Beaulieu, Chandree L., Bernier, Francois P., Sparkes, Rebecca, Innes, A. Micheil, Jackel-Cram, Candice, Ober, Carole, Parboosingh, Jillian S., Lemire, Edmond G.

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 120 KB

english, 2017

4

Noonan syndrome or new autosomal dominant condition with coarctation of the aorta, hypertrophic cardiomyopathy, and minor anomalies

Edmond G. Lemire

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 126 KB

english, 2002

5

A familial disorder with duodenal atresia and tetralogy of Fallot

Lemire, Edmond G., Evans, Jane A., Giddins, Niels G., Harman, Christopher R., Wiseman, Nathan E., Chudley, Albert E.

Journal:

American Journal of Medical Genetics

Year:

1996

Language:

english

File:

PDF, 657 KB

english, 1996

6

Familial Interstitial Pulmonary Fibrosis: A Large Family with Atypical Clinical Features

Chibbar, Ranji, Gjevre, John A, Shih, Francis, Neufeld, Heather, Lemire, Edmond G, Fladeland, Derek A, Cockcroft, Donald W

Journal:

Canadian Respiratory Journal

Year:

2010

File:

PDF, 6.78 MB

2010

7

Nonspecific interstitial pneumonia and usual interstitial pneumonia with mutation in surfactant protein C in familial pulmonary fibrosis

Chibbar, Rajni, Shih, Francis, Baga, Monica, Torlakovic, Emina, Ramlall, Kumar, Skomro, Robert, Cockcroft, Donald W, Lemire, Edmond G

Journal:

Modern Pathology

Year:

2004

Language:

english

File:

PDF, 493 KB

english, 2004

8

Allergic symptoms after pandemic influenza vaccination rarely mediated by vaccine-specific IgE

Rouleau, Isabelle, De Serres, Gaston, Drolet, Jean Philippe, Banerjee, Devi, Lemire, Chantal, Moore, Andrew, Paradis, Louis, Alizadhefar, Reza, Des Roches, Anne, Chan, Edmond S., Stark, Donald, Benoit

Journal:

Journal of Allergy and Clinical Immunology

Year:

2012

Language:

english

File:

PDF, 136 KB

english, 2012

9

Congenital anterolateral tibial bowing and polydactyly: a case report

Edmond G Lemire

Journal:

Journal of Medical Case Reports

Year:

2007

Language:

english

File:

PDF, 213 KB

english, 2007

10

Discordant intrauterine environment may explain discordance in monozygotic twins

Edmond G. Lemire

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 51 KB

english, 2007

11

Hallowed beginning

Edmond G Lemire, Albert E Chudley

Journal:

Clinical Genetics

Year:

2000

Language:

english

File:

PDF, 188 KB

english, 2000

12

Complex genomic rearrangements in the dystrophin gene due to replication-based mechanisms

Baskin, Berivan, Stavropoulos, Dimitri J., Rebeiro, Paige A., Orr, Jennifer, Li, Martin, Steele, Leslie, Marshall, Christian R., Lemire, Edmond G., Boycott, Kym M., Gibson, William, Ray, Peter N.

Journal:

Molecular Genetics & Genomic Medicine

Year:

2014

Language:

english

File:

PDF, 1.20 MB

english, 2014

13

SAMS: Provisionally unique multiple congenital anomalies syndrome consisting of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities

Lemire, Edmond G., Hildes-Ripstein, G. Elske, Reed, Martin H., Chudley, Albert E.

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 377 KB

english, 1998

14

Sotos syndrome: Antenatal presentation

Aidan Thomas, Edmond G. Lemire

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 40 KB

english, 2008

15

Clinical and radiologic findings in an adult male with dysosteosclerosis

Edmond G. Lemire, Sheldon Wiebe

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 164 KB

english, 2008

16

Familial RYR 1 Mutation Associated with Mild and Severe Central Core Disease

Erendzhinova, Ekaterina, Robinson, Christopher A., Lowry, Noel J., Lemire, Edmond G.

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2010

Language:

english

File:

PDF, 251 KB

english, 2010

17

Mutations in the structural gene for cytochromecresult in deficiency of both cytochromesaa3andcinNeurospora crassa

Drell A. Bottorff, Sukran Parmaksizoglu, Edmond G. Lemire, John W. Coffin, Helmut Bertrand, Frank E. Nargang

Journal:

Current Genetics

Year:

1994

Language:

english

File:

PDF, 845 KB

english, 1994

18

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro–costo–mandibular syndrome

Lynch, Danielle C., Revil, Timothée, Schwartzentruber, Jeremy, Bhoj, Elizabeth J., Innes, A. Micheil, Lamont, Ryan E., Lemire, Edmond G., Chodirker, Bernard N., Taylor, Juliet P., Zackai, Elaine H., M

Journal:

Nature Communications

Year:

2014

Language:

english

File:

PDF, 776 KB

english, 2014

19

Omphalocele in an infant with Cornelia de Lange syndrome

Lemire, Edmond G.

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 40 KB

english, 2006

20

Alteration of the cytochromecoxidase subunit 2 gene in the [exn-5] mutant ofNeurospora crassa

Edmond G. Lemire, Jennifer A. Percy, Joy M. Correia, Bonnie M. Crowther, Frank E. Nargang

Journal:

Current Genetics

Year:

1991

Language:

english

File:

PDF, 922 KB

english, 1991

21

Disease-Causing 7.4 kb Cis-Regulatory Deletion Disrupting Conserved Non-Coding Sequences and Their Interaction with the FOXL2 Promotor: Implications for Mutation Screening

D'haene, Barbara, Attanasio, Catia, Beysen, Diane, Dostie, Josée, Lemire, Edmond, Bouchard, Philippe, Field, Michael, Jones, Kristie, Lorenz, Birgit, Menten, Björn, Buysse, Karen, Pattyn, Filip, Fried

Journal:

Year:

2009

Language:

english

File:

PDF, 646 KB

english, 2009

22

Two brothers with severe developmental delay, growth retardation and unusual appearance

Lemire, Edmond G., Stoeber, Gwendolyn P., Anselmo, Mark, Lowry, R. Brian

Journal:

Clinical Dysmorphology

Year:

2001

Language:

english

File:

PDF, 346 KB

english, 2001

23

A de novo deletion in a boy with cerebral palsy suggests a refined critical region for the 4q21.22 microdeletion syndrome

Zarrei, Mehdi, Merico, Daniele, Kellam, Barbara, Engchuan, Worrawat, Scriver, Tara, Jokhan, Rikash, Wilson, Michael D., Parr, Jeremy, Lemire, Edmond G., Stavropoulos, Dimitri J., Scherer, Stephen W.

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 2.74 MB

english, 2017

24

DOMINANT β-THALASSEMIA DUE TO A NEWLY IDENTIFIED FRAMESHIFT MUTATION IN EXON 3 (CODON 113, GTG → TG)

Waye, John S., Walker, Lynda, Lafferty, John, Lemire, Edmond G., Chui, David H. K.

Journal:

Year:

2002

Language:

english

File:

PDF, 123 KB

english, 2002

25

Spinal CSF Leaks: Mimicker of Primary Headache Disorder in a Child

Harder, Sheri, Griebel, Robert W., Lemire, Edmond G., Kriegler, Stefan, Gitlin, Josh, Seshia, Shashi S.

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2012

Language:

english

File:

PDF, 303 KB

english, 2012

26

Short stature, pulmonary hypertension, sclerodactyly-like involvement and dysmorphic appearance: a newly described syndrome?

Lemire, Edmond G., Petch, Patricia

Journal:

Clinical Dysmorphology

Year:

2004

Language:

english

File:

PDF, 120 KB

english, 2004

27

The mitochondrial plasmid from Neurospora intermedia strain Labelle-1b contains a long open reading frame with blocks of amino acids characteristic of reverse transcriptases and related proteins

Pande, Suchira, Lemire, Edmond G., Nargang, Frank E.

Journal:

Nucleic Acids Research

Year:

1989

Language:

english

File:

PDF, 1.31 MB

english, 1989

28

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

Dan Doherty, Albert E. Chudley, Gail Coghlan, Gisele E. Ishak, A. Micheil Innes, Edmond G. Lemire, R. Curtis Rogers, Aizeddin A. Mhanni, Ian G. Phelps, Steven J.M. Jones, Shing H. Zhan, Anthony P. Fej

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 34 KB

english, 2012

29

Optic nerve coloboma, Dandy-Walker malformation, microglossia, tongue hamartomata, cleft palate and apneic spells: an existing oral-facial-digital syndrome or a new variant?

Toriello, Helga V., Lemire, Edmond G.

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 206 KB

english, 2002

30

Acute pancreatitis in a patient with glutaric acidemia type I

Edmond G. Lemire, Stan Moroz, Bradley Pollock, Ray Postuma, Cheryl R. Greenberg

Journal:

The Journal of Pediatrics

Year:

1996

Language:

english

File:

PDF, 163 KB

english, 1996

31

Bowen-Conradi syndrome

Lemire, Edmond G.

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 60 KB

english, 2002

32

A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population

Lamont, Ryan E., Beaulieu, Chandree L., Bernier, Francois P., Sparkes, Rebecca, Innes, A. Micheil, Jackel-Cram, Candice, Ober, Carole, Parboosingh, Jillian S., Lemire, Edmond G.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 279 KB

english, 2016

33

Epidural labour analgesia in a parturient with Noonan syndrome: a case report

Joelle McBain, Edmond G Lemire, David C Campbell

Journal:

Canadian Journal of Anesthesia/Journal canadien d'anesthésie

Year:

2006

File:

PDF, 115 KB

2006

34

Spondylocarpotarsal synostosis syndrome: MRI evaluation of vertebral and disk malformation

Magnus Breitling, Edmond G. Lemire, Michael Rabin

Journal:

Pediatric Radiology

Year:

2006

Language:

english

File:

PDF, 251 KB

english, 2006

35

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

Dan Doherty, Albert E. Chudley, Gail Coghlan, Gisele E. Ishak, A. Micheil Innes, Edmond G. Lemire, R. Curtis Rogers, Aizeddin A. Mhanni, Ian G. Phelps, Steven J.M. Jones, Shing H. Zhan, Anthony P. Fej

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 494 KB

english, 2012

36

Chudley-Mccullough syndrome: Bilateral sensorineural deafness, hydrocephalus, and other structural brain abnormalities

Lemire, Edmond G., Stoeber, Gwendolyn P.

Journal:

American Journal of Medical Genetics

Year:

2000

Language:

english

File:

PDF, 273 KB

english, 2000

37

Extreme intra-familial variability of congenital central hypoventilation syndrome: a case series

Elizabeth Bygarski, Melanie Paterson, Edmond G Lemire

Journal:

Journal of Medical Case Reports

Year:

2013

Language:

english

File:

PDF, 216 KB

english, 2013

38

The differential diagnosis of spastic diplegia: Figure 1

Huntsman, Richard, Lemire, Edmond, Norton, Jonathon, Dzus, Anne, Blakley, Patricia, Hasal, Simona

Journal:

Archives of Disease in Childhood

Year:

2015

Language:

english

File:

PDF, 1.04 MB

english, 2015

39

Egg-allergic patients can be safely vaccinated against influenza

Des Roches, Anne, Paradis, Louis, Gagnon, Remi, Lemire, Chantal, Bégin, Philippe, Carr, Stuart, Chan, Edmond S., Paradis, Jean, Frenette, Lyne, Ouakki, Manale, Benoît, Mélanie, De Serres, Gaston

Journal:

Journal of Allergy and Clinical Immunology

Year:

2012

Language:

english

File:

PDF, 86 KB

english, 2012

40

Unusual phenotype in partial trisomy 14

Lemire, Edmond G., Cardwell, Sharon

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 151 KB

english, 1999

41

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS)

David L. Skidmore, David Chitayat, Tim Morgan, Alek Hinek, Bjoern Fischer, Aikaterini Dimopoulou, Gino Somers, William Halliday, Susan Blaser, Yenge Diambomba, Edmond G. Lemire, Uwe Kornak, Stephen P.

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 4.35 MB

english, 2011

42

Ophthalmic findings in Setleis syndrome: two new cases in a mother and son

Kent, Jerrod S., Romanchuk, Kenneth G., Lemire, Edmond G.

Journal:

Canadian Journal of Ophthalmology / Journal Canadien d'Ophtalmologie

Year:

2007

Language:

english

File:

PDF, 369 KB

english, 2007

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