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Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.
Published in:
American Journal of Medical Genetics. Part A, 2021, v. 185, n. 1, p. 15, doi. 10.1002/ajmg.a.61907
By:
- Crow, Yanick J;
- Marshall, Heather;
- Rice, Gillian I;
- Seabra, Luis;
- Jenkinson, Emma M;
- Baranano, Kristin;
- Battini, Roberta;
- Berger, Andrea;
- Blair, Edward;
- Blauwblomme, Thomas;
- Bolduc, Francois;
- Boddaert, Natalie;
- Buckard, Johannes;
- Burnett, Heather;
- Calvert, Sophie;
- Caumes, Roseline;
- Ng, Andy Cheuk‐Him;
- Chiang, Diana;
- Clifford, David B;
- Cordelli, Duccio M
Publication type:
Article
Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3.
Published in:
2011
By:
- Jenkinson, Emma M.;
- Kingston, Helen;
- Urquhart, Jill;
- Khan, Naz;
- Melville, Athalie;
- Swinton, Martin;
- Crow, Yanick J.;
- Davis, Julian R.E.;
- Trump, Dorothy;
- Newman, William G.
Publication type:
Other
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
Published in:
Nature Genetics, 2014, v. 46, n. 5, p. 503, doi. 10.1038/ng.2933
By:
- Rice, Gillian I;
- del Toro Duany, Yoandris;
- Jenkinson, Emma M;
- Forte, Gabriella M A;
- Anderson, Beverley H;
- Ariaudo, Giada;
- Bader-Meunier, Brigitte;
- Baildam, Eileen M;
- Battini, Roberta;
- Beresford, Michael W;
- Casarano, Manuela;
- Chouchane, Mondher;
- Cimaz, Rolando;
- Collins, Abigail E;
- Cordeiro, Nuno J V;
- Dale, Russell C;
- Davidson, Joyce E;
- De Waele, Liesbeth;
- Desguerre, Isabelle;
- Faivre, Laurence
Publication type:
Article
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
Published in:
Nature Genetics, 2012, v. 44, n. 11, p. 1243, doi. 10.1038/ng.2414
By:
- Rice, Gillian I;
- Kasher, Paul R;
- Forte, Gabriella M A;
- Mannion, Niamh M;
- Greenwood, Sam M;
- Szynkiewicz, Marcin;
- Dickerson, Jonathan E;
- Bhaskar, Sanjeev S;
- Zampini, Massimiliano;
- Briggs, Tracy A;
- Jenkinson, Emma M;
- Bacino, Carlos A;
- Battini, Roberta;
- Bertini, Enrico;
- Brogan, Paul A;
- Brueton, Louise A;
- Carpanelli, Marialuisa;
- De Laet, Corinne;
- de Lonlay, Pascale;
- del Toro, Mireia
Publication type:
Article
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.
Published in:
Nature Genetics, 2012, v. 44, n. 3, p. 338, doi. 10.1038/ng.1084
By:
- Anderson, Beverley H;
- Kasher, Paul R;
- Mayer, Josephine;
- Szynkiewicz, Marcin;
- Jenkinson, Emma M;
- Bhaskar, Sanjeev S;
- Urquhart, Jill E;
- Daly, Sarah B;
- Dickerson, Jonathan E;
- O'Sullivan, James;
- Leibundgut, Elisabeth Oppliger;
- Muter, Joanne;
- Abdel-Salem, Ghada M H;
- Babul-Hirji, Riyana;
- Baxter, Peter;
- Berger, Andrea;
- Bonafé, Luisa;
- Brunstom-Hernandez, Janice E;
- Buckard, Johannes A;
- Chitayat, David
Publication type:
Article
Genome sequencing in persistently unsolved white matter disorders.
Published in:
Annals of Clinical & Translational Neurology, 2020, v. 7, n. 1, p. 144, doi. 10.1002/acn3.50957
By:
- Helman, Guy;
- Lajoie, Bryan R.;
- Crawford, Joanna;
- Takanohashi, Asako;
- Walkiewicz, Marzena;
- Dolzhenko, Egor;
- Gross, Andrew M.;
- Gainullin, Vladimir G.;
- Bent, Stephen J.;
- Jenkinson, Emma M.;
- Ferdinandusse, Sacha;
- Waterham, Hans R.;
- Dorboz, Imen;
- Bertini, Enrico;
- Miyake, Noriko;
- Wolf, Nicole I.;
- Abbink, Truus E. M.;
- Kirwin, Susan M.;
- Tan, Christina M.;
- Hobson, Grace M.
Publication type:
Article
Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.
Published in:
Human Mutation, 2015, v. 36, n. 5, p. 489, doi. 10.1002/humu.22778
By:
- Lemos, Roberta R.;
- Ramos, Eliana M.;
- Legati, Andrea;
- Nicolas, Gaël;
- Jenkinson, Emma M.;
- Livingston, John H.;
- Crow, Yanick J.;
- Campion, Dominique;
- Coppola, Giovanni;
- Oliveira, João R. M.
Publication type:
Article

Found: 7

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum.

Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3.

Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.

Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus.

Genome sequencing in persistently unsolved white matter disorders.

Update and Mutational Analysis of SLC20A2: A Major Cause of Primary Familial Brain Calcification.