Works matching AU Allanson, Judith


Results: 83
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    Personal journeys to and in human genetics and dysmorphology.

    Published in:
    American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63514
    By:
    • Schwartz, Charles E.;
    • Aylsworth, Arthur S.;
    • Allanson, Judith;
    • Battaglia, Agatino;
    • Carey, John C.;
    • Curry, Cynthia J.;
    • Davies, Kay E.;
    • Eichler, Evan E.;
    • Graham, John M.;
    • Hall, Bryan;
    • Hall, Judith G.;
    • Holmes, Lewis B.;
    • Hoyme, H. Eugene;
    • Hunter, Alasdair;
    • Innis, Jeffrey;
    • Johnson, John;
    • Keppler‐Noreuil, Kim M.;
    • Leroy, Jules G.;
    • Moore, Cynthia;
    • Nelson, David L.
    Publication type:
    Article
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    Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 3, p. 292, doi. 10.1038/ejhg.2014.95
    By:
    • Verloes, Alain;
    • Di Donato, Nataliya;
    • Masliah-Planchon, Julien;
    • Jongmans, Marjolijn;
    • Abdul-Raman, Omar A;
    • Albrecht, Beate;
    • Allanson, Judith;
    • Brunner, Han;
    • Bertola, Debora;
    • Chassaing, Nicolas;
    • David, Albert;
    • Devriendt, Koen;
    • Eftekhari, Pirayeh;
    • Drouin-Garraud, Valérie;
    • Faravelli, Francesca;
    • Faivre, Laurence;
    • Giuliano, Fabienne;
    • Guion Almeida, Leina;
    • Juncos, Jorge;
    • Kempers, Marlies
    Publication type:
    Article
    9

    Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27.

    Published in:
    European Journal of Human Genetics, 2015, v. 23, n. 1, p. 54, doi. 10.1038/ejhg.2014.51
    By:
    • Peddibhotla, Sirisha;
    • Nagamani, Sandesh CS;
    • Erez, Ayelet;
    • Hunter, Jill V;
    • Holder Jr, J Lloyd;
    • Carlin, Mary E;
    • Bader, Patricia I;
    • Perras, Helene MF;
    • Allanson, Judith E;
    • Newman, Leslie;
    • Simpson, Gayle;
    • Immken, LaDonna;
    • Powell, Erin;
    • Mohanty, Aaron;
    • Kang, Sung-Hae L;
    • Stankiewicz, Pawel;
    • Bacino, Carlos A;
    • Bi, Weimin;
    • Patel, Ankita;
    • Cheung, Sau W
    Publication type:
    Article
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    Public views on participating in newborn screening using genome sequencing.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1248, doi. 10.1038/ejhg.2014.22
    By:
    • Bombard, Yvonne;
    • Miller, Fiona A;
    • Hayeems, Robin Z;
    • Barg, Carolyn;
    • Cressman, Celine;
    • Carroll, June C;
    • Wilson, Brenda J;
    • Little, Julian;
    • Avard, Denise;
    • Painter-Main, Michael;
    • Allanson, Judith;
    • Giguere, Yves;
    • Chakraborty, Pranesh
    Publication type:
    Article
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    Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 4, p. 420, doi. 10.1038/ejhg.2008.188
    By:
    • Neumann, Thomas E.;
    • Allanson, Judith;
    • Kavamura, Ines;
    • Kerr, Bronwyn;
    • Neri, Giovanni;
    • Noonan, Jacqueline;
    • Cordeddu, Viviana;
    • Gibson, Kate;
    • Tzschach, Andreas;
    • Krüger, Gabriele;
    • Hoeltzenbein, Maria;
    • Goecke, Timm O.;
    • Kehl, Hans Gerd;
    • Albrecht, Beate;
    • Luczak, Klaudiusz;
    • Sasiadek, Maria M;
    • Musante, Luciana;
    • Laurie, Rohan;
    • Peters, Hartmut;
    • Tartaglia, Marco
    Publication type:
    Article
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    Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.

    Published in:
    Nature Genetics, 2004, v. 36, n. 4, p. 405, doi. 10.1038/ng1319
    By:
    • King, Lily M.;
    • Morgan, Timothy;
    • Sebald, Eiman T.;
    • Bertolotto, Cristina;
    • Wachsmann-Hogiu, Sebastian;
    • Acuna, Dora;
    • Shapiro, Sandor S.;
    • Takafuta, Toshiro;
    • Aftimos, Salim;
    • Chong Ae Kim;
    • Firth, Helen;
    • Steiner, Carlos E.;
    • Cormier-Daire, Valerie;
    • Superti-Furga, Andrea;
    • Bonafe, Luisa;
    • Graham Jr, John M.;
    • Grix, Arthur;
    • Bacino, Carlos A.;
    • Allanson, Judith;
    • Bialer, Martin G.
    Publication type:
    Article
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    Whole-brain modelling identifies distinct but convergent paths to unconsciousness in anaesthesia and disorders of consciousness.

    Published in:
    Communications Biology, 2022, v. 5, n. 1, p. 1, doi. 10.1038/s42003-022-03330-y
    By:
    • Luppi, Andrea I.;
    • Mediano, Pedro A. M.;
    • Rosas, Fernando E.;
    • Allanson, Judith;
    • Pickard, John D.;
    • Williams, Guy B.;
    • Craig, Michael M.;
    • Finoia, Paola;
    • Peattie, Alexander R. D.;
    • Coppola, Peter;
    • Owen, Adrian M.;
    • Naci, Lorina;
    • Menon, David K.;
    • Bor, Daniel;
    • Stamatakis, Emmanuel A.
    Publication type:
    Article
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    A genomic rearrangement resulting in a tandem duplication is associated with split hand–split foot malformation 3 (SHFM3) at 10q24.

    Published in:
    Human Molecular Genetics, 2003, v. 12, n. 16, p. 1959, doi. 10.1093/hmg/ddg212
    By:
    • de Mollerat, Xavier J.;
    • Gurrieri, Fiorella;
    • Morgan, Chad T.;
    • Sangiorgi, Eugenio;
    • Everman, David B.;
    • Gaspari, Paola;
    • Amiel, Jeanne;
    • Bamshad, Michael J.;
    • Lyle, Robert;
    • Blouin, Jean-Louis;
    • Allanson, Judith E.;
    • Le Marec, Bernard;
    • Wilson, Melba;
    • Braverman, Nancy E.;
    • Radhakrishna, Uppala;
    • Delozier-Blanchet, Celia;
    • Abbott, Albert;
    • Elghouzzi, Vincent;
    • Antonarakis, Stylianos;
    • Stevenson, Roger E.
    Publication type:
    Article
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    SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia.

    Published in:
    Neurogenetics, 2014, v. 15, n. 1, p. 23, doi. 10.1007/s10048-013-0378-5
    By:
    • Baker, Matt;
    • Strongosky, Audrey;
    • Sanchez-Contreras, Monica;
    • Yang, Shan;
    • Ferguson, Will;
    • Calne, Donald;
    • Calne, Susan;
    • Stoessl, A.;
    • Allanson, Judith;
    • Broderick, Daniel;
    • Hutton, Michael;
    • Dickson, Dennis;
    • Ross, Owen;
    • Wszolek, Zbigniew;
    • Rademakers, Rosa
    Publication type:
    Article
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    Comparison of health-related quality of life in patients with traumatic brain injury, subarachnoid haemorrhage and cervical spine disease.

    Published in:
    British Journal of Neurosurgery, 2024, v. 38, n. 6, p. 1332, doi. 10.1080/02688697.2022.2152777
    By:
    • Tsyben, Anastasia;
    • Guilfoyle, Mathew R.;
    • Laing, Rodney J. C.;
    • Timofeev, Ivan;
    • Anwar, Fahim;
    • Trivedi, Rikin A.;
    • Kirollos, Ramez W.;
    • Turner, Carole;
    • Allanson, Judith;
    • Mee, Harry;
    • Outtrim, Joanne G.;
    • Menon, David K.;
    • Hutchinson, Peter J. A.;
    • Helmy, Adel
    Publication type:
    Article
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    The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.

    Published in:
    Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-63
    By:
    • Nikkel, Sarah M.;
    • Dauber, Andrew;
    • De Munnik, Sonja;
    • Connolly, Meghan;
    • Hood, Rebecca L.;
    • Caluseriu, Oana;
    • Hurst, Jane;
    • Kini, Usha;
    • Nowaczyk, Malgorzata J. M.;
    • Afenjar, Alexandra;
    • Albrecht, Beate;
    • Allanson, Judith E.;
    • Balestri, Paolo;
    • Ben-Omran, Tawfeg;
    • Brancati, Francesco;
    • Cordeiro, Isabel;
    • Santos da Cunha, Bruna;
    • Delaney, Louisa A.;
    • Destrée, Anne;
    • Fitzpatrick, David
    Publication type:
    Article
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    The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.

    Published in:
    2013
    By:
    • Nikkel, Sarah M;
    • Dauber, Andrew;
    • de Munnik, Sonja;
    • Connolly, Meghan;
    • Hood, Rebecca L;
    • Caluseriu, Oana;
    • Hurst, Jane;
    • Kini, Usha;
    • Nowaczyk, Malgorzata J M;
    • Afenjar, Alexandra;
    • Albrecht, Beate;
    • Allanson, Judith E;
    • Balestri, Paolo;
    • Ben-Omran, Tawfeg;
    • Brancati, Francesco;
    • Cordeiro, Isabel;
    • da Cunha, Bruna Santos;
    • Delaney, Louisa A;
    • Destrée, Anne;
    • Fitzpatrick, David
    Publication type:
    journal article
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    Genetics: factor V Leiden.

    Published in:
    2010
    By:
    • Cremin C;
    • Carroll JC;
    • Allanson J;
    • Blaine SM;
    • Dorman H;
    • Gibbons CA;
    • Honeywell C;
    • Meschino WS;
    • Permaul J;
    • Wilson BJ;
    • Cremin, Carol;
    • Carroll, June C;
    • Allanson, Judith;
    • Blaine, Sean M;
    • Dorman, Heather;
    • Gibbons, Clare A;
    • Honeywell, Christina;
    • Meschino, Wendy S;
    • Permaul, Joanne;
    • Wilson, Brenda J
    Publication type:
    journal article
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    Genetics: Factor V Leiden.

    Published in:
    Canadian Family Physician / Médecin de Famille Canadien, 2010, v. 56, n. 4, p. 353
    By:
    • Cremin, Carol;
    • Carroll, June C.;
    • Allanson, Judith;
    • Blaine, Sean M.;
    • Dorman, Heather;
    • Gibbons, Clare A.;
    • Honeywell, Christina;
    • Meschino, Wendy S.;
    • Permaul, Joanne;
    • Wilson, Brenda J.
    Publication type:
    Article
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    Genetics: Preimplantation genetic diagnosis.

    Published in:
    2010
    By:
    • Gibbons CA;
    • Allanson J;
    • Blaine SM;
    • Cremin C;
    • Dorman H;
    • Honeywell C;
    • Meschino WS;
    • Permaul J;
    • Carroll JC;
    • Gibbons, Clare A;
    • Allanson, Judith;
    • Blaine, Sean M;
    • Cremin, Carol;
    • Dorman, Heather;
    • Honeywell, Christina;
    • Meschino, Wendy S;
    • Permaul, Joanne;
    • Carroll, June C
    Publication type:
    journal article
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    Genetics: familial melanoma.

    Published in:
    2010
    By:
    • Cremin C;
    • Blaine SM;
    • Allanson J;
    • Dorman H;
    • Gibbons CA;
    • Honeywell C;
    • Meschino WS;
    • Permaul J;
    • Carroll JC;
    • Cremin, Carol;
    • Blaine, Sean M;
    • Allanson, Judith;
    • Dorman, Heather;
    • Gibbons, Clare A;
    • Honeywell, Christina;
    • Meschino, Wendy S;
    • Permaul, Joanne;
    • Carroll, June C
    Publication type:
    journal article
    35

    Genetics: schizophrenia.

    Published in:
    2009
    By:
    • Rideout AL;
    • Carroll JC;
    • Blaine SM;
    • Cremin C;
    • Dorman H;
    • Gibbons CA;
    • Honeywell C;
    • Meschino WS;
    • Permaul J;
    • Allanson J;
    • Rideout, Andrea L;
    • Carroll, June C;
    • Blaine, Sean M;
    • Cremin, Carol;
    • Dorman, Heather;
    • Gibbons, Clare A;
    • Honeywell, Christina;
    • Meschino, Wendy S;
    • Permaul, Joanne;
    • Allanson, Judith
    Publication type:
    journal article
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    Genetic education for primary care providers: Improving attitudes, knowledge, and confidence.

    Published in:
    Canadian Family Physician / Médecin de Famille Canadien, 2009, v. 55, n. 12, p. e92
    By:
    • Carroll, June C.;
    • Rideout, Andrea L.;
    • Wilson, Brenda J.;
    • Allanson, Judith;
    • Blaine, Sean M.;
    • Esplen, Mary Jane;
    • Farrell, Sandra A.;
    • Graham, Gail E.;
    • MacKenzie, Jennifer;
    • Meschino, Wendy;
    • Miller, Fiona;
    • Prakash, Preeti;
    • Shuman, Cheryl;
    • Summers, Anne;
    • Taylor, Sherry
    Publication type:
    Article
    38

    Genetics: Hypertrophic cardiomyopathy.

    Published in:
    2009
    By:
    • Honeywell C;
    • Meschino WS;
    • Allanson J;
    • Blaine SM;
    • Cremin C;
    • Dorman H;
    • Gibbons CA;
    • Permaul J;
    • Carroll JC;
    • Honeywell, Christina;
    • Meschino, Wendy S;
    • Allanson, Judith;
    • Blaine, Sean M;
    • Cremin, Carol;
    • Dorman, Heather;
    • Gibbons, Clare A;
    • Permaul, Joanne;
    • Carroll, June C
    Publication type:
    journal article
    39

    Genetics: Newborn screening for sickle cell anemia.

    Published in:
    2009
    By:
    • Meschino WS;
    • Gibbons CA;
    • Allanson J;
    • Blaine SM;
    • Cremin C;
    • Dorman H;
    • Honeywell C;
    • Permaul J;
    • Wilson BJ;
    • Carroll JC;
    • Meschino, Wendy S;
    • Gibbons, Clare A;
    • Allanson, Judith;
    • Blaine, Sean M;
    • Cremin, Carol;
    • Dorman, Heather;
    • Honeywell, Christina;
    • Permaul, Joanne;
    • Wilson, Brenda J;
    • Carroll, June C
    Publication type:
    journal article
    40

    Genetics: type 2 diabetes.

    Published in:
    2009
    By:
    • Dorman H;
    • Meschino WS;
    • Allanson J;
    • Blaine SM;
    • Cremin C;
    • Gibbons CA;
    • Honeywell C;
    • Permaul J;
    • Carroll JC;
    • Dorman, Heather;
    • Meschino, Wendy S;
    • Allanson, Judith;
    • Blaine, Sean M;
    • Cremin, Carol;
    • Gibbons, Clare A;
    • Honeywell, Christina;
    • Permaul, Joanne;
    • Carroll, June C
    Publication type:
    journal article
    41

    Genetics: prostate cancer.

    Published in:
    2009
    By:
    • Blaine SM;
    • Honeywell C;
    • Allanson J;
    • Cremin C;
    • Dorman H;
    • Gibbons CA;
    • Meschino WS;
    • Permaul J;
    • Carroll JC;
    • Blaine, Sean M;
    • Honeywell, Christina;
    • Allanson, Judith;
    • Cremin, Carol;
    • Dorman, Heather;
    • Gibbons, Clare A;
    • Meschino, Wendy S;
    • Permaul, Joanne;
    • Carroll, June C
    Publication type:
    journal article
    42

    Genetics: Alzheimer disease.

    Published in:
    2009
    By:
    • Dorman H;
    • Meschino WS;
    • Allanson J;
    • Blaine SM;
    • Cremin C;
    • Gibbons CA;
    • Honeywell C;
    • Permaul J;
    • Carroll JC;
    • Dorman, Heather;
    • Meschino, Wendy S;
    • Allanson, Judith;
    • Blaine, Sean M;
    • Cremin, Carol;
    • Gibbons, Clare A;
    • Honeywell, Christina;
    • Permaul, Joanne;
    • Carroll, June C
    Publication type:
    journal article
    43

    Genetics: newborn screening for MCAD deficiency.

    Published in:
    2009
    By:
    • Carroll JC;
    • Gibbons CA;
    • Blaine SM;
    • Cremin C;
    • Dorman H;
    • Honeywell C;
    • Meschino WS;
    • Permaul J;
    • Allanson J;
    • Carroll, June C;
    • Gibbons, Clare A;
    • Blaine, Sean M;
    • Cremin, Carol;
    • Dorman, Heather;
    • Honeywell, Christina;
    • Meschino, Wendy S;
    • Permaul, Joanne;
    • Allanson, Judith
    Publication type:
    journal article
    44

    Genetics: Codeine metabolism.

    Published in:
    2009
    By:
    • Gibbons CA;
    • Blaine SM;
    • Allanson J;
    • Cremin C;
    • Dorman H;
    • Honeywell C;
    • Meschino WS;
    • Permaul J;
    • Carroll JC;
    • Gibbons, Clare A;
    • Blaine, Sean M;
    • Allanson, Judith;
    • Cremin, Carol;
    • Dorman, Heather;
    • Honeywell, Christina;
    • Meschino, Wendy S;
    • Permaul, Joanne;
    • Carroll, June C
    Publication type:
    journal article
    45

    Genetics: hereditary hemochromatosis.

    Published in:
    2009
    By:
    • Allanson J;
    • Honeywell C;
    • Blaine SM;
    • Cremin C;
    • Dorman H;
    • Gibbons CA;
    • Grimshaw J;
    • Meschino WS;
    • Permaul J;
    • Wilson BJ;
    • Carroll JC;
    • Allanson, Judith;
    • Honeywell, Christina;
    • Blaine, Sean M;
    • Cremin, Carol;
    • Dorman, Heather;
    • Gibbons, Clare A;
    • Grimshaw, Jeremy;
    • Meschino, Wendy S;
    • Permaul, Joanne
    Publication type:
    journal article
    46

    Hereditary breast and ovarian cancers.

    Published in:
    2008
    By:
    • Carroll JC;
    • Cremin C;
    • Allanson J;
    • Blaine SM;
    • Dorman H;
    • Gibbons CA;
    • Grimshaw J;
    • Honeywell C;
    • Meschino WS;
    • Permaul J;
    • Wilson BJ;
    • Carroll, June C;
    • Cremin, Carol;
    • Allanson, Judith;
    • Blaine, Sean M;
    • Dorman, Heather;
    • Gibbons, Clare A;
    • Grimshaw, Jeremy;
    • Honeywell, Christina;
    • Meschino, Wendy S
    Publication type:
    journal article
    47

    Spectral Signatures of Reorganised Brain Networks in Disorders of Consciousness.

    Published in:
    PLoS Computational Biology, 2014, v. 10, n. 10, p. 1, doi. 10.1371/journal.pcbi.1003887
    By:
    • Chennu, Srivas;
    • Finoia, Paola;
    • Kamau, Evelyn;
    • Allanson, Judith;
    • Williams, Guy B.;
    • Monti, Martin M.;
    • Noreika, Valdas;
    • Arnatkeviciute, Aurina;
    • Canales-Johnson, Andrés;
    • Olivares, Francisco;
    • Cabezas-Soto, Daniela;
    • Menon, David K.;
    • Pickard, John D.;
    • Owen, Adrian M.;
    • Bekinschtein, Tristan A.
    Publication type:
    Article
    48

    Opposite effects on facial morphology due to gene dosage sensitivity.

    Published in:
    Human Genetics, 2014, v. 133, n. 9, p. 1117, doi. 10.1007/s00439-014-1455-z
    By:
    • Hammond, Peter;
    • McKee, Shane;
    • Suttie, Michael;
    • Allanson, Judith;
    • Cobben, Jan-Maarten;
    • Maas, Saskia;
    • Quarrell, Oliver;
    • Smith, Ann;
    • Lewis, Suzanne;
    • Tassabehji, May;
    • Sisodiya, Sanjay;
    • Mattina, Teresa;
    • Hennekam, Raoul
    Publication type:
    Article
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