Neuropathy due to impaired axonal transport of non-fragmented mitochondria in MYH14 mutation carriers—Authors’ reply

Yazar: Pfeffer, Gerald, Innes, A. Micheil, Shutt, Timothy E.
Yayımlandı EBioMedicine (2019)

Intracerebral hemorrhage in a young man

Yazar: Coutts, Shelagh B., Matysiak-Scholze, Uta, Kohlhase, Jürgen, Innes, A. Micheil
Baskı/Yayın Bilgisi 2011

A rational approach to the child with mental retardation for the paediatrician

Yazar: Lemay, Jean-François, Herbert, Anthony R, Dewey, Deborah M, Innes, A Micheil
Baskı/Yayın Bilgisi 2003

An unusual tumor spectrum in Lynch syndrome caused by MSH6 mutation

Yazar: Perrier, Renee L, Van Galen, Paulein, Pasieka, Janice L, Magliocco, Tony, Innes, A Micheil
Baskı/Yayın Bilgisi 2010

The de novo CACNA1A pathogenic variant Y1384C associated with hemiplegic migraine, early onset cerebellar atrophy and developmental delay leads to a loss of Cav2.1 channel function

Yazar: Gandini, Maria A., Souza, Ivana A., Ferron, Laurent, Innes, A. Micheil, Zamponi, Gerald W.
Yayımlandı Mol Brain (2021)

Skeletal Phenotypes Due to Abnormalities in Mitochondrial Protein Homeostasis and Import

Yazar: Zhao, Tian, Goedhart, Caitlin, Pfeffer, Gerald, Greenway, Steven C, Lines, Matthew, Khan, Aneal, Innes, A Micheil, Shutt, Timothy E
Yayımlandı Int J Mol Sci (2020)

Myofibrillar myopathy due to TTN mutation in a Canadian family sharing the British founder haplotype

Yazar: Pfeffer, Gerald, Joseph, Jeffrey T., Innes, A. Micheil, Frizzell, J. Bevan, Wilson, Ian J., Brownell, A. Keith W., Chinnery, Patrick F.
Yayımlandı Can J Neurol Sci (2014)

Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population

Yazar: Triggs‐Raine, Barbara, Dyck, Tamara, Boycott, Kym M., Innes, A. Micheil, Ober, Carole, Parboosingh, Jillian S., Botkin, Alexis, Greenberg, Cheryl R., Spriggs, Elizabeth L.
Yayımlandı Mol Genet Genomic Med (2016)

Congenital rickets caused by maternal vitamin D deficiency

Yazar: Innes, A Micheil, Seshia, Molly M, Prasad, Chitra, Al Saif, Saif, Friesen, Frank R, Chudley, Albert E, Reed, Martin, Dilling, Louise A, Haworth, James C, Greenberg, Cheryl R
Baskı/Yayın Bilgisi 2002

GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Cau...

Yazar: Au, P.Y. Billie, You, Jing, Caluseriu, Oana, Schwartzentruber, Jeremy, Majewski, Jacek, Bernier, Francois P., Ferguson, Marcia, Valle, David, Parboosingh, Jillian S., Sobreira, Nara, Innes, A. Micheil, Kline, Antonie D.
Yayımlandı Hum Mutat (2015)

A Shared Founder Mutation Underlies Restrictive Dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite Patients in North America

Yazar: Loucks, Catrina, Parboosingh, Jillian S., Chong, Jessica X., Ober, Carole, Siu, Victoria M., Hegele, Robert A., Rupar, C. Anthony, McLeod, D. Ross, Pinto, Alfredo, Chudley, Albert E., Innes, A. Micheil
Yayımlandı Am J Med Genet A (2012)

Biallelic Mutations in BRCA1 Cause a New Fanconi Anemia Subtype

Yazar: Sawyer, Sarah L., Tian, Lei, Kähkönen, Marketta, Schwartzentruber, Jeremy, Kircher, Martin, Majewski, Jacek, Dyment, David A., Innes, A. Micheil, Boycott, Kym M., Moreau, Lisa A., Moilanen, Jukka S., Greenberg, Roger A.
Yayımlandı Cancer Discov (2014)

RTTN Mutations Cause Primary Microcephaly and Primordial Dwarfism in Humans

Yazar: 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, Majewski, Jacek, Bernier, Francois P., Alkuraya, Fowzan S.
Yayımlandı Am J Hum Genet (2015)

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

Yazar: 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., Bernier, Francois P., Abou Jamra, Rami
Yayımlandı Am J Hum Genet (2014)

Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial and ectodermal anomalies

Yazar: Loucks, Catrina M., Parboosingh, Jillian S., Shaheen, Ranad, Bernier, Francois P., McLeod, D. Ross, Seidahmed, Mohammed Z., Puffenberger, Erik G., Ober, Carole, Hegele, Robert A., Boycott, Kym M., Alkuraya, Fowzan S., Innes, A. Micheil
Yayımlandı Hum Mutat (2015)

Biallelic sequence variants in INTS1 in patients with developmental delays, cataracts, and craniofacial anomalies

Yazar: Krall, Max, Htun, Stephanie, Schnur, Rhonda E., Brooks, Alice S., Baker, Laura, de Alba Campomanes, Alejandra, Lamont, Ryan E., Gripp, Karen W., Schneidman-Duhovny, Dina, Innes, A. Micheil, Mancini, Grazia M. S., Slavotinek, Anne M.
Yayımlandı Eur J Hum Genet (2019)

De novo substitutions of TRPM3 cause intellectual disability and epilepsy

Yazar: Dyment, David A., Terhal, Paulien A., Rustad, Cecilie F., Tveten, Kristian, Griffith, Christopher, Jayakar, Parul, Shinawi, Marwan, Ellingwood, Sara, Smith, Rosemarie, van Gassen, Koen, McWalter, Kirsty, Innes, A. Micheil, Lines, Matthew A.
Yayımlandı Eur J Hum Genet (2019)

Prenatal features of Costello syndrome: Ultrasonographic findings and atrial tachycardia

Yazar: Lin, Angela E., O’Brien, Barbara, Demmer, Laurie A., Almeda, Kristina K., Blanco, Cynthia L., Glasow, Patrick F., Berul, Charles I., Hamilton, Robert, Innes, A. Micheil, Lauzon, Julie L., Sol-Church, Katia, Gripp, Karen W.
Yayımlandı Prenat Diagn (2009)

Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

Yazar: van Dijk, Tessa, Ferdinandusse, Sacha, Ruiter, Jos P. N., Alders, Mariëlle, Mathijssen, Inge B., Parboosingh, Jillian S., Innes, A. Micheil, Meijers-Heijboer, Hanne, Poll-The, Bwee Tien, Bernier, Francois P., Wanders, Ronald J. A., Lamont, Ryan E., Baas, Frank
Yayımlandı Eur J Hum Genet (2018)

PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes

Yazar: Zhao, Tian, Goedhart, Caitlin M, Sam, Pingdewinde N, Sabouny, Rasha, Lingrell, Susanne, Cornish, Adam J, Lamont, Ryan E, Bernier, Francois P, Sinasac, David, Parboosingh, Jillian S, Vance, Jean E, Claypool, Steven M, Innes, A Micheil, Shutt, Timothy E
Yayımlandı Life Sci Alliance (2019)