Works matching AU Campeau, Philippe M.

Results: 65
    1
    2
    3

    Expanding the phenotype of PIGS‐associated early onset epileptic developmental encephalopathy.

    Published in:
    Epilepsia (Series 4), 2021, v. 62, n. 2, p. e35, doi. 10.1111/epi.16801
    By:
    • Efthymiou, Stephanie;
    • Dutra‐Clarke, Marina;
    • Maroofian, Reza;
    • Kaiyrzhanov, Rauan;
    • Scala, Marcello;
    • Reza Alvi, Javeria;
    • Sultan, Tipu;
    • Christoforou, Marilena;
    • Tuyet Mai Nguyen, Thi;
    • Mankad, Kshitij;
    • Vona, Barbara;
    • Rad, Aboulfazl;
    • Striano, Pasquale;
    • Salpietro, Vincenzo;
    • Guillen Sacoto, Maria J.;
    • Zaki, Maha S.;
    • Gleeson, Joseph G.;
    • Campeau, Philippe M.;
    • Russell, Bianca E.;
    • Houlden, Henry
    Publication type:
    Article
    4

    Hot water epilepsy and SYN1 variants.

    Published in:
    2018
    By:
    • Peron, Angela;
    • Baratang, Nissan V.;
    • Canevini, Maria Paola;
    • Campeau, Philippe M.;
    • Vignoli, Aglaia
    Publication type:
    Letter to the Editor
    5
    6
    7
    8

    Biallelic variants in GLE1 with survival beyond neonatal period.

    Published in:
    Clinical Genetics, 2020, v. 98, n. 6, p. 622, doi. 10.1111/cge.13841
    By:
    • Yates, T. Michael;
    • Campeau, Philippe M.;
    • Ghoumid, Jamal;
    • Kibaek, Maria;
    • Larsen, Martin J.;
    • Smol, Thomas;
    • Albaba, Sami;
    • Hertz, Jens Michael;
    • Balasubramanian, Meena
    Publication type:
    Article
    9
    10

    Myhre and LAPS syndromes: clinical and molecular review of 32 patients.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1272, doi. 10.1038/ejhg.2013.288
    By:
    • Michot, Caroline;
    • Le Goff, Carine;
    • Mahaut, Clémentine;
    • Afenjar, Alexandra;
    • Brooks, Alice S;
    • Campeau, Philippe M;
    • Destree, Anne;
    • Di Rocco, Maja;
    • Donnai, Dian;
    • Hennekam, Raoul;
    • Heron, Delphine;
    • Jacquemont, Sébastien;
    • Kannu, Peter;
    • Lin, Angela E;
    • Manouvrier-Hanu, Sylvie;
    • Mansour, Sahar;
    • Marlin, Sandrine;
    • McGowan, Ruth;
    • Murphy, Helen;
    • Raas-Rothschild, Annick
    Publication type:
    Article
    11

    Myhre and LAPS syndromes: clinical and molecular review of 32 patients.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1340, doi. 10.1038/ejhg.2014.182
    By:
    • Michot, Caroline;
    • Le Goff, Carine;
    • Mahaut, Clémentine;
    • Afenjar, Alexandra;
    • Brooks, Alice S;
    • Campeau, Philippe M;
    • Destree, Anne;
    • Di Rocco, Maja;
    • Donnai, Dian;
    • Hennekam, Raoul;
    • Heron, Delphine;
    • Jacquemont, Sébastien;
    • Kannu, Peter;
    • Lin, Angela E;
    • Manouvrier-Hanu, Sylvie;
    • Mansour, Sahar;
    • Marlin, Sandrine;
    • McGowan, Ruth;
    • Murphy, Helen;
    • Raas-Rothschild, Annick
    Publication type:
    Article
    12

    Correction to: Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.

    Published in:
    2021
    By:
    • Howie, Alison H.;
    • Tingley, Kylie;
    • Inbar-Feigenberg, Michal;
    • Mitchell, John J.;
    • Butcher, Nancy J.;
    • Offringa, Martin;
    • Smith, Maureen;
    • Angel, Kim;
    • Gentle, Jenifer;
    • Wyatt, Alexandra;
    • Campeau, Philippe M.;
    • Chan, Alicia;
    • Chakraborty, Pranesh;
    • El Turk, Farah;
    • Mamak, Eva;
    • Mhanni, Aizeddin;
    • Skidmore, Becky;
    • Sparkes, Rebecca;
    • Stockler, Sylvia;
    • Potter, Beth K.
    Publication type:
    corrected article
    13

    Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.

    Published in:
    2021
    By:
    • Howie, Alison H.;
    • Tingley, Kylie;
    • Inbar-Feigenberg, Michal;
    • Mitchell, John J.;
    • Butcher, Nancy J.;
    • Offringa, Martin;
    • Smith, Maureen;
    • Angel, Kim;
    • Gentle, Jenifer;
    • Wyatt, Alexandra;
    • Campeau, Philippe M.;
    • Chan, Alicia;
    • Chakraborty, Pranesh;
    • El Turk, Farah;
    • Mamak, Eva;
    • Mhanni, Aizeddin;
    • Skidmore, Becky;
    • Sparkes, Rebecca;
    • Stockler, Sylvia;
    • Potter, Beth K.
    Publication type:
    Literature Review
    14

    Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.

    Published in:
    2021
    By:
    • Howie, Alison H.;
    • Tingley, Kylie;
    • Inbar-Feigenberg, Michal;
    • Mitchell, John J.;
    • Butcher, Nancy J.;
    • Offringa, Martin;
    • Smith, Maureen;
    • Angel, Kim;
    • Gentle, Jenifer;
    • Wyatt, Alexandra;
    • Campeau, Philippe M.;
    • Chan, Alicia;
    • Chakraborty, Pranesh;
    • El Turk, Farah;
    • Mamak, Eva;
    • Mhanni, Aizeddin;
    • Skidmore, Becky;
    • Sparkes, Rebecca;
    • Stockler, Sylvia;
    • Potter, Beth K.
    Publication type:
    journal article
    15

    Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia.

    Published in:
    2017
    By:
    • Egunsola, Adetutu T.;
    • Yangjin Bae;
    • Ming-Ming Jiang;
    • Liu, David S.;
    • Yuqing Chen-Evenson;
    • Bertin, Terry;
    • Shan Chen;
    • Lu, James T.;
    • Nevarez, Lisette;
    • Magal, Nurit;
    • Raas-Rothschild, Annick;
    • Swindell, Eric C.;
    • Cohn, Daniel H.;
    • Gibbs, Richard A.;
    • Campeau, Philippe M.;
    • Shohat, Mordechai;
    • Lee, Brendan H.;
    • Bae, Yangjin;
    • Jiang, Ming-Ming;
    • Chen-Evenson, Yuqing
    Publication type:
    journal article
    16
    17
    18

    Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

    Published in:
    Nature Genetics, 2015, v. 47, n. 6, p. 661, doi. 10.1038/ng.3282
    By:
    • Kortüm, Fanny;
    • Kutsche, Kerstin;
    • Korenke, Georg Christoph;
    • Leuzzi, Vincenzo;
    • Mowat, David;
    • Nair, Lal D V;
    • Nguyen, Thi Tuyet Mai;
    • Thierry, Patrick;
    • White, Susan M;
    • Campeau, Philippe M;
    • Tartaglia, Marco;
    • Caputo, Viviana;
    • Pizzuti, Antonio;
    • Bauer, Christiane K;
    • Stella, Lorenzo;
    • Bocchinfuso, Gianfranco;
    • Ciolfi, Andrea;
    • Flex, Elisabetta;
    • Alawi, Malik;
    • Paolacci, Stefano
    Publication type:
    Article
    19

    DNA Methylation Signature for JARID2 -Neurodevelopmental Syndrome.

    Published in:
    International Journal of Molecular Sciences, 2022, v. 23, n. 14, p. 8001, doi. 10.3390/ijms23148001
    By:
    • Verberne, Eline A.;
    • van der Laan, Liselot;
    • Haghshenas, Sadegheh;
    • Rooney, Kathleen;
    • Levy, Michael A.;
    • Alders, Mariëlle;
    • Maas, Saskia M.;
    • Jansen, Sandra;
    • Lieden, Agne;
    • Anderlid, Britt-Marie;
    • Rafael-Croes, Louise;
    • Campeau, Philippe M.;
    • Chaudhry, Ayeshah;
    • Koolen, David A.;
    • Pfundt, Rolph;
    • Hurst, Anna C. E.;
    • Tran-Mau-Them, Frederic;
    • Bruel, Ange-Line;
    • Lambert, Laetitia;
    • Isidor, Bertrand
    Publication type:
    Article
    20

    Epilepsy in KCNH1-related syndromes.

    Published in:
    Epileptic Disorders, 2016, v. 18, n. 2, p. 123, doi. 10.1684/epd.2016.0830
    By:
    • Mastrangelo, Mario;
    • Scheffer, Ingrid E.;
    • Bramswig, Nuria C.;
    • Nair, Lal. D.V.;
    • Myers, Candace T.;
    • Dentici, Maria Lisa;
    • Korenke, Georg C.;
    • Schoch, Kelly;
    • Campeau, Philippe M.;
    • White, Susan M.;
    • Shashi, Vandana;
    • Kansagra, Sujay;
    • Van Essen, Anthonie J.;
    • Leuzzi, Vincenzo
    Publication type:
    Article
    21
    22
    23
    24
    25
    26
    27

    Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.

    Published in:
    Human Genetics, 2022, v. 141, n. 2, p. 257, doi. 10.1007/s00439-021-02412-x
    By:
    • Kreienkamp, Hans-Jürgen;
    • Wagner, Matias;
    • Weigand, Heike;
    • McConkie-Rossell, Allyn;
    • McDonald, Marie;
    • Keren, Boris;
    • Mignot, Cyril;
    • Gauthier, Julie;
    • Soucy, Jean-François;
    • Michaud, Jacques L.;
    • Dumas, Meghan;
    • Smith, Rosemarie;
    • Löbel, Ulrike;
    • Hempel, Maja;
    • Kubisch, Christian;
    • Denecke, Jonas;
    • Campeau, Philippe M.;
    • Bain, Jennifer M.;
    • Lessel, Davor
    Publication type:
    Article
    28

    PIGF deficiency causes a phenotype overlapping with DOORS syndrome.

    Published in:
    Human Genetics, 2021, v. 140, n. 6, p. 879, doi. 10.1007/s00439-020-02251-2
    By:
    • Salian, Smrithi;
    • Benkerroum, Hind;
    • Nguyen, Thi Tuyet Mai;
    • Nampoothiri, Sheela;
    • Kinoshita, Taroh;
    • Félix, Têmis Maria;
    • Stewart, Fiona;
    • Sisodiya, Sanjay M.;
    • Murakami, Yoshiko;
    • Campeau, Philippe M.
    Publication type:
    Article
    29
    30
    31
    32

    BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07193-y
    By:
    • Aref-Eshghi, Erfan;
    • Bend, Eric G.;
    • Hood, Rebecca L.;
    • Schenkel, Laila C.;
    • Carere, Deanna Alexis;
    • Chakrabarti, Rana;
    • Nagamani, Sandesh C. S.;
    • Cheung, Sau Wai;
    • Campeau, Philippe M.;
    • Prasad, Chitra;
    • Siu, Victoria Mok;
    • Brady, Lauren;
    • Tarnopolsky, Mark A.;
    • Callen, David J.;
    • Innes, A. Micheil;
    • White, Susan M.;
    • Meschino, Wendy S.;
    • Shuen, Andrew Y.;
    • Paré, Guillaume;
    • Bulman, Dennis E.
    Publication type:
    Article
    33
    34

    Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 733, doi. 10.1002/ajmg.a.38059
    By:
    • Machol, Keren;
    • Jain, Mahim;
    • Almannai, Mohammed;
    • Orand, Thibault;
    • Lu, James T.;
    • Tran, Alyssa;
    • Chen, Yuqing;
    • Schlesinger, Alan;
    • Gibbs, Richard;
    • Bonafe, Luisa;
    • Campos‐Xavier, Ana Belinda;
    • Unger, Sheila;
    • Superti‐Furga, Andrea;
    • Lee, Brendan H.;
    • Campeau, Philippe M.;
    • Burrage, Lindsay C.
    Publication type:
    Article
    35

    Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1309, doi. 10.1002/ajmg.a.36899
    By:
    • Posey, Jennifer E.;
    • Burrage, Lindsay C.;
    • Campeau, Philippe M.;
    • Lu, James T.;
    • Eble, Tanya N.;
    • Kratz, Lisa;
    • Schlesinger, Alan E.;
    • Gibbs, Richard A.;
    • Lee, Brendan H.;
    • Nagamani, Sandesh C.S.
    Publication type:
    Article
    36

    FBN1 contributing to familial congenital diaphragmatic hernia.

    Published in:
    American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 831, doi. 10.1002/ajmg.a.36960
    By:
    • Beck, Tyler F.;
    • Campeau, Philippe M.;
    • Jhangiani, Shalini N.;
    • Gambin, Tomasz;
    • Li, Alexander H.;
    • Abo‐Zahrah, Reem;
    • Jordan, Valerie K.;
    • Hernandez‐Garcia, Andres;
    • Wiszniewski, Wojciech K.;
    • Muzny, Donna;
    • Gibbs, Richard A.;
    • Boerwinkle, Eric;
    • Lupski, James R.;
    • Lee, Brendan;
    • Reardon, Willie;
    • Scott, Daryl A.
    Publication type:
    Article
    37

    A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.

    Published in:
    Journal of Bone & Mineral Research, 2017, v. 32, n. 9, p. 1853, doi. 10.1002/jbmr.3173
    By:
    • Pacheco-Cuéllar, Guillermo;
    • Lachance, Christian;
    • Lemire-Girard, Marlène;
    • Decaluwe, Hélène;
    • Duval, Michel;
    • Haddad, Élie;
    • Campeau, Philippe M;
    • Gauthier, Julie;
    • Désilets, Valérie;
    • Rypens, Françoise;
    • Le Deist, Françoise;
    • Bouron-Dal Soglio, Dorothée;
    • Kokta, Victor
    Publication type:
    Article
    38
    39

    Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM 5 Mutation.

    Published in:
    Journal of Bone & Mineral Research, 2013, v. 28, n. 7, p. 1523, doi. 10.1002/jbmr.1891
    By:
    • Shapiro, Jay R;
    • Lietman, Caressa;
    • Grover, Monica;
    • Lu, James T;
    • Nagamani, Sandesh CS;
    • Dawson, Brian C;
    • Baldridge, Dustin M;
    • Bainbridge, Matthew N;
    • Cohn, Dan H;
    • Blazo, Maria;
    • Roberts, Timothy T;
    • Brennen, Feng-Shu;
    • Wu, Yimei;
    • Gibbs, Richard A;
    • Melvin, Pamela;
    • Campeau, Philippe M;
    • Lee, Brendan H
    Publication type:
    Article
    40

    Requirement of argininosuccinate lyase for systemic nitric oxide production.

    Published in:
    Nature Medicine, 2011, v. 17, n. 12, p. 1619, doi. 10.1038/nm.2544
    By:
    • Erez, Ayelet;
    • Nagamani, Sandesh C S;
    • Shchelochkov, Oleg A;
    • Premkumar, Muralidhar H;
    • Campeau, Philippe M;
    • Chen, Yuqing;
    • Garg, Harsha K;
    • Li, Li;
    • Mian, Asad;
    • Bertin, Terry K;
    • Black, Jennifer O;
    • Zeng, Heng;
    • Tang, Yaoping;
    • Reddy, Anilkumar K;
    • Summar, Marshall;
    • O'Brien, William E;
    • Harrison, David G;
    • Mitch, William E;
    • Marini, Juan C;
    • Aschner, Judy L
    Publication type:
    Article
    41

    Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype.

    Published in:
    Annals of Neurology, 2025, v. 97, n. 2, p. 388, doi. 10.1002/ana.27113
    By:
    • Record, Christopher J.;
    • O'Connor, Antoinette;
    • Verbeek, Nienke E.;
    • van Rheenen, Wouter;
    • Zamba Papanicolaou, Eleni;
    • Peric, Stojan;
    • Ligthart, Peter C.;
    • Skorupinska, Mariola;
    • van Binsbergen, Ellen;
    • Campeau, Philippe M.;
    • Ivanovic, Vukan;
    • Hennigan, Brian;
    • McHugh, John C.;
    • Blake, Julian C.;
    • Murakami, Yoshiko;
    • Laura, Matilde;
    • Murphy, Sinéad M.;
    • Reilly, Mary M.
    Publication type:
    Article
    42
    43
    44
    45

    Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement.

    Published in:
    Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03364-x
    By:
    • Howie, Alison H.;
    • Tingley, Kylie;
    • Inbar-Feigenberg, Michal;
    • Mitchell, John J.;
    • Angel, Kim;
    • Gentle, Jenifer;
    • Smith, Maureen;
    • Offringa, Martin;
    • Butcher, Nancy J.;
    • Campeau, Philippe M.;
    • Chakraborty, Pranesh;
    • Chan, Alicia;
    • Fergusson, Dean;
    • Mamak, Eva;
    • McClelland, Peyton;
    • Mercimek-Andrews, Saadet;
    • Mhanni, Aizeddin;
    • Moazin, Zeinab;
    • Rockman-Greenberg, Cheryl;
    • Rupar, C. Anthony
    Publication type:
    Article
    46
    47

    Management of West Syndrome in a Patient With Methylmalonic Aciduria.

    Published in:
    Journal of Child Neurology, 2010, v. 25, n. 1, p. 94, doi. 10.1177/0883073809336119
    By:
    • Campeau, Philippe M.;
    • Valayannopoulos, Vassili;
    • Touati, Guy;
    • Bahi-Buisson, Nadia;
    • Boddaert, Nathalie;
    • Plouin, Perrine;
    • Rabier, Daniel;
    • Benoist, Jean-François;
    • Dulac, Olivier;
    • de Lonlay, Pascale;
    • Desguerre, Isabelle
    Publication type:
    Article
    48
    49
    50