A Micheil Innes: search on Z-Library

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1

A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America

Catrina Loucks, Jillian S. Parboosingh, Jessica X. Chong, Carole Ober, Victoria M. Siu, Robert A. Hegele, C. Anthony Rupar, D. Ross McLeod, Alfredo Pinto, Albert E. Chudley, A. Micheil Innes

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 133 KB

english, 2012

2

Absence of a Paternally Inherited FOXP2 Gene in Developmental Verbal Dyspraxia

Lars Feuk, Aino Kalervo, Marita Lipsanen-Nyman, Jennifer Skaug, Kazuhiko Nakabayashi, Brenda Finucane, Danielle Hartung, Micheil Innes, Batsheva Kerem, Małgorzata J. Nowaczyk, Joseph Rivlin, Wendy Rob

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 208 KB

english, 2006

3

Intellectual disability associated with a homozygous missense mutation inTHOC6

Chandree L Beaulieu, Lijia Huang, A Micheil Innes…

Journal:

Orphanet Journal of Rare Diseases

Year:

2013

Language:

english

File:

PDF, 354 KB

english, 2013

4

De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: Two new cases and a clinical review

Au, P.Y. Billie, Racher, Hilary E., Graham, John M., Kramer, Nancy, Lowry, R. Brian, Parboosingh, Jillian S., Innes, A. Micheil

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 627 KB

english, 2014

5

The hutterite variant of treacher collins syndrome: A 28-year-old story solved

Caluseriu, Oana, Lowry, Brian R., McLeod, Ross, Lamont, Ryan, Parboosingh, Jillian S., Bernier, Francois P., Innes, A. Micheil

Journal:

American Journal of Medical Genetics Part A

Year:

2013

Language:

english

File:

PDF, 2.13 MB

english, 2013

6

Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy

Sawyer, Sarah L., Cheuk-Him Ng, Andy, Innes, A. Micheil, Wagner, Justin D., Dyment, David A., Tetreault, Martine, Majewski, Jacek, Boycott, Kym M., Screaton, Robert A., Nicholson, Garth

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 930 KB

english, 2015

7

Copy-number variations are enriched for neurodevelopmental genes in children with developmental coordination disorder

Mosca, Stephen J, Langevin, Lisa Marie, Dewey, Deborah, Innes, A Micheil, Lionel, Anath C, Marshall, Christian C, Scherer, Stephen W, Parboosingh, Jillian S, Bernier, Francois P

Journal:

Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 565 KB

english, 2016

8

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

9

Clinical and functional characterization of recurrent missense variants implicated in THOC6 -related intellectual disability

Francesca, Mattioli, Bertrand, Isidor, Omar, Abdul-Rahman, Gunter, Andrew, Lijia, Huang, Kumar, Raman, Chandree, Beaulieu, Gecz, Jozef, Micheil, Innes, Jean-Louis, Mandel, Amélie, Piton

Journal:

Human Molecular Genetics

Year:

2018

Language:

english

File:

PDF, 2.72 MB

english, 2018

10

X-chromosome inactivation is mostly random in placental tissues of female monozygotic twins and triplets

Bamforth, Fiona, Machin, Geoffrey, Innes, Micheil

Journal:

American Journal of Medical Genetics

Year:

1996

File:

PDF, 655 KB

1996

11

Third case of cerebral, ocular, dental, auricular, skeletal anomalies (CODAS) syndrome, further delineating a new malformation syndrome: First report of an affected male and review of literature

A. Micheil Innes, Albert E. Chudley, Martin H. Reed, E. Paul Shuckett, G. Elske Hildes-Ripstein, Cheryl R. Greenberg

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 186 KB

english, 2001

12

Some perinatal characteristics of monozygotic twins who are dichorionic

Geoffrey Machin, Fiona Bamforth, Micheil Innes, Kim McNichol

Journal:

American Journal of Medical Genetics Part A

Year:

1995

Language:

english

File:

PDF, 543 KB

english, 1995

13

A locus for Bowen–Conradi syndrome maps to chromosome region 12p13.3

Ryan E. Lamont, JC. Loredo-Osti, Nicole M. Roslin, Jill Mauthe, Gail Coghlan, Edward Nylen, Danielle Frappier, A. Micheil Innes, Edward G. Lemire, R. Brian Lowry, Cheryl R. Greenberg, Barbara L. Trigg

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 309 KB

english, 2005

14

Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation

David B. Everman, Chad T. Morgan, Robert Lyle, Mary E. Laughridge, Michael J. Bamshad, Katie B. Clarkson, Randall Colby, Fiorella Gurrieri, A. Micheil Innes, Jacquelyn Roberson, Connie Schrander-Stump

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 203 KB

english, 2006

15

Unique disease heritage of the Dutch-German Mennonite population

Noelle C. Orton, A. Micheil Innes, Albert E. Chudley, N. Torben Bech-Hansen

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 324 KB

english, 2008

16

Costello syndrome associated with novel germline HRAS mutations: An attenuated phenotype?

Karen W. Gripp, A. Micheil Innes, Marni E. Axelrad, Tanya L. Gillan, Jillian S. Parboosingh, Christine Davies, Norma J. Leonard, Monique Lapointe, Daniel Doyle, Sarah Catalano, Linda Nicholson, Debora

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 257 KB

english, 2008

17

An undiagnosed cytogenetic abnormality results in the misidentification of a Duchenne muscular dystrophy carrier

Tanya L. Gillan, Christine Davies, A. Micheil Innes, Jayda Howard, Lisa Graham, Judy Chernos, Peter J. Bridge, Jillian S. Parboosingh

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 153 KB

english, 2008

18

A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population

Kym M. Boycott, Chandree Beaulieu, Erik G. Puffenberger, D. Ross McLeod, Jillian S. Parboosingh, A. Micheil Innes

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 308 KB

english, 2010

19

Bilateral frontoparietal polymicrogyria: Clinical and radiological features in 10 families with linkage to chromosome 16

Bernard S. Chang, Xianhua Piao, Adria Bodell, Lina Basel-Vanagaite, Rachel Straussberg, William B. Dobyns, Bassam Qasrawi, Robin M. Winter, A. Micheil Innes, Thomas Voit, P. Ellen Grant, A. James Bark

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 350 KB

english, 2003

20

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome

Georgia Ramantani, Jürgen Kohlhase, Christoph Hertzberg, A. Micheil Innes, Kerstin Engel, Susan Hunger, Wiktor Borozdin, Jean K. Mah, Kristina Ungerath, Hartmut Walkenhorst, Hans-Helmut Richardt, Joha

Journal:

Arthritis & Rheumatism

Year:

2010

Language:

english

File:

PDF, 139 KB

english, 2010

21

Genetic landmarks through philately – Henry Louis ‘Lou’ Gehrig and amyotrophic lateral sclerosis

A Micheil Innes, Albert E Chudley

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 138 KB

english, 1999

22

An unusual tumor spectrum in Lynch syndrome caused by MSH6 mutation

Renee L Perrier, Paulein Van Galen, Janice L Pasieka, Tony Magliocco, A Micheil Innes

Journal:

Hereditary Cancer in Clinical Practice

Year:

2010

Language:

english

File:

PDF, 126 KB

english, 2010

23

Interstitial deletion of 11q in a mother and fetus: implications of directly transmitted chromosomal imbalances for prenatal genetic counseling

Rebecca L. Sparkes, Shashirekha Shetty, Judy E. Chernos, Heather C. Mefford, A. Micheil Innes

Journal:

Prenatal Diagnosis

Year:

2009

Language:

english

File:

PDF, 228 KB

english, 2009

24

Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia

Angela E. Lin, Barbara O'Brien, Laurie A. Demmer, Kristina K. Almeda, Cynthia L. Blanco, Patrick F. Glasow, Charles I. Berul, Robert Hamilton, A. Micheil Innes, Julie L. Lauzon, Katia Sol-Church, Kare

Journal:

Prenatal Diagnosis

Year:

2009

Language:

english

File:

PDF, 321 KB

english, 2009

25

Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia

Ana Belinda Campos-Xavier, Danielle Martinet, John Bateman, Dan Belluoccio, Lynn Rowley, Tiong Yang Tan, Alica Baxová, Karl-Henrik Gustavson, Zvi U. Borochowitz, A. Micheil Innes, Sheila Unger, Jacque

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.17 MB

english, 2009

26

TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone

Lijia Huang, Katarzyna Szymanska, Victor L. Jensen, Andreas R. Janecke, A. Micheil Innes, Erica E. Davis, Patrick Frosk, Chunmei Li, Jason R. Willer, Bernard N. Chodirker, Cheryl R. Greenberg, D. Ross

Journal:

The American Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 2.05 MB

english, 2011

27

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

28

Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

Francois P. Bernier, Oana Caluseriu, Sarah Ng, Jeremy Schwartzentruber, Kati J. Buckingham, A. Micheil Innes, Ethylin Wang Jabs, Jeffrey W. Innis, Jane L. Schuette, Jerome L. Gorski, Peter H. Byers, G

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 639 KB

english, 2012

29

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

30

Optimizing genotype quality metrics for individual exomes and cohort analysis

Paul MK Gordon, Leo Dimnik, Ryan Lamont, Micheil Innes, Francois Bernier…

Journal:

BMC Proceedings

Year:

2012

Language:

english

File:

PDF, 93 KB

english, 2012

31

Homozygous Lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy

Wiltshire, Katie M., Hegele, Robert A., Innes, A. Micheil, Brownell, A. Keith W.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 274 KB

english, 2013

32

High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith–Wiedemann syndrome

Baskin, Berivan, Choufani, Sanaa, Chen, Yi-an, Shuman, Cheryl, Parkinson, Nicole, Lemyre, Emmanuelle, Micheil Innes, A., Stavropoulos, Dimitri J., Ray, Peter N., Weksberg, Rosanna

Journal:

Year:

2014

Language:

english

File:

PDF, 470 KB

english, 2014

33

Epilepsy in Aicardi–Goutières syndrome

Ramantani, Georgia, Maillard, Louis G., Bast, Thomas, Husain, Ralf A., Niggemann, Pascal, Kohlhase, Jürgen, Hertzberg, Christoph, Ungerath, Kristina, Innes, Micheil A., Walkenhorst, Hartmut, Bevot, An

Journal:

European Journal of Paediatric Neurology

Year:

2014

Language:

english

File:

PDF, 1.03 MB

english, 2014

34

[Handbook of Clinical Neurology] Malformations of the Nervous System Volume 87 || Molecular genetic testing and genetic counseling

Micheil Innes, A.

Year:

2007

Language:

english

File:

PDF, 188 KB

english, 2007

35

A Peroxisomal Disorder of Severe Intellectual Disability, Epilepsy, and Cataracts Due to Fatty Acyl-CoA Reductase 1 Deficiency

Buchert, Rebecca, Tawamie, Hasan, Smith, Christopher, Uebe, Steffen, Innes, A. Micheil, Al Hallak, Bassam, Ekici, Arif B., Sticht, Heinrich, Schwarze, Bernd, Lamont, Ryan E., Parboosingh, Jillian S.,

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.37 MB

english, 2014

36

Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures

Au, P.Y. Billie, Argiropoulos, Bob, Parboosingh, Jillian S., Micheil Innes, A.

Journal:

American Journal of Medical Genetics Part A

Year:

2014

Language:

english

File:

PDF, 768 KB

english, 2014

37

Kabuki Syndrome and Crohn Disease in a Child with Familial Hypocalciuric Hypercalcemia

Ho, Josephine, Fox, Danya, Innes, A. Micheil, McLeod, Ross, Butzner, Decker, Johnson, Nicole, Trevenen, Cynthia, Kendrick, Victoria, Cole, David E. C.

Journal:

Journal of Pediatric Endocrinology and Metabolism

Year:

2010

Language:

english

File:

PDF, 55 KB

english, 2010

38

Neuropathologic Features of Pontocerebellar Hypoplasia Type 6

Joseph, Jeffrey T., Innes, A. Micheil, Smith, Amanda C., Vanstone, Megan R., Schwartzentruber, Jeremy A., Bulman, Dennis E., Majewski, Jacek, Daza, Ray A., Hevner, Robert F., Michaud, Jean, Boycott, K

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

2014

Language:

english

File:

PDF, 4.61 MB

english, 2014

39

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

40

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

Shamseldin, Hanan, Alazami, Anas M., Manning, Melanie, Hashem, Amal, Caluseiu, Oana, Tabarki, Brahim, Esplin, Edward, Schelley, Susan, Innes, A. Micheil, Parboosingh, Jillian S., Lamont, Ryan, Majewsk

Journal:

The American Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.43 MB

english, 2015

41

TUBA1A Mutation Associated With Eye Abnormalities in Addition to Brain Malformation

Myers, Kenneth A., Bello-Espinosa, Luis E., Kherani, Amin, Wei, Xing-Chang, Innes, Allan Micheil

Journal:

Pediatric Neurology

Year:

2015

Language:

english

File:

PDF, 440 KB

english, 2015

42

Next Generation Diagnostics for Rare Neurological Diseases: The Future is Here

Innes, A. Micheil, Boycott, Kym M.

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2014

Language:

english

File:

PDF, 43 KB

english, 2014

43

Familial trigeminal neuralgia

Fleetwood, Ian G., Innes, A. Micheil, Hansen, Susan R., Steinberg, Gary K.

Journal:

Journal of Neurosurgery

Year:

2001

Language:

english

File:

PDF, 52 KB

english, 2001

44

Expansion of phenotype and genotypic data in CRB2-related syndrome

Lamont, Ryan E, Tan, Wen-Hann, Innes, A Micheil, Parboosingh, Jillian S, Schneidman-Duhovny, Dina, Rajkovic, Aleksandar, Pappas, John, Altschwager, Pablo, DeWard, Stephanie, Fulton, Anne, Gray, Kathry

Journal:

European Journal of Human Genetics

Year:

2016

File:

PDF, 682 KB

2016

45

Expansion of phenotype and genotypic data in CRB2-related syndrome

Lamont, Ryan E, Tan, Wen-Hann, Innes, A Micheil, Parboosingh, Jillian S, Schneidman-Duhovny, Dina, Rajkovic, Aleksandar, Pappas, John, Altschwager, Pablo, DeWard, Stephanie, Fulton, Anne, Gray, Kathry

Journal:

European Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 682 KB

english, 2016

46

A novel mutation in two Hmong families broadens the range of STRA6 -related malformations to include contractures and camptodactyly

Marcadier, Julien L., Mears, Alan J., Woods, Elizabeth A., Fisher, Jamie, Airheart, Cory, Qin, Wen, Beaulieu, Chandree L., Dyment, David A., Innes, A. Micheil, Curry, Cynthia J.

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 2.86 MB

english, 2016

47

Titinopathy in a Canadian Family Sharing the British Founder Haplotype

Pfeffer, Gerald, Joseph, Jeffrey T., Innes, A. Micheil, Frizzell, J. Bevan, Wilson, Ian J., Brownell, A. Keith W., Chinnery, Patrick F.

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

2014

Language:

english

File:

PDF, 23.18 MB

english, 2014

48

Bowen-Conradi syndrome in non Hutterite infant

Micheil Innes, A., Brian Lowry, R.

Journal:

Clinical Dysmorphology

Year:

2002

Language:

english

File:

PDF, 69 KB

english, 2002

49

Re: 3C (Ritscher???Schinzel) syndrome: the importance of ruling out a terminal 6p deletion

Micheil Innes, A.

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 39 KB

english, 2005

50

A relatively mild skeletal ciliopathy phenotype consistent with cranioectodermal dysplasia is associated with a homozygous nonsynonymous mutation in WDR35

Smith, Christopher, Lamont, Ryan E., Wade, Andrew, Bernier, Francois P., Parboosingh, Jillian S., Innes, A. Micheil

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 695 KB

english, 2016

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