Works matching IS 15524825 AND DT 2017 AND VI 173 AND IP 3

Results: 50
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    CRTAP variants in early-onset osteoporosis and recurrent fractures.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 806, doi. 10.1002/ajmg.a.38065
    By:
    • Costantini, Alice;
    • Vuorimies, Ilkka;
    • Mäkitie, Riikka;
    • Mäyränpää, Mervi K.;
    • Becker, Jutta;
    • Pekkinen, Minna;
    • Valta, Helena;
    • Netzer, Christian;
    • Kämpe, Anders;
    • Taylan, Fulya;
    • Jiao, Hong;
    • Mäkitie, Outi
    Publication type:
    Article
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    A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 611, doi. 10.1002/ajmg.a.38069
    By:
    • Dunn, P.;
    • Prigatano, G. P.;
    • Szelinger, S.;
    • Roth, J.;
    • Siniard, A. L.;
    • Claasen, A. M.;
    • Richholt, R. F.;
    • De Both, M.;
    • Corneveaux, J. J.;
    • Moskowitz, A. M.;
    • Balak, C.;
    • Piras, I. S.;
    • Russell, M.;
    • Courtright, A. L.;
    • Belnap, N.;
    • Rangasamy, S.;
    • Ramsey, K.;
    • Opitz, J. M.;
    • Craig, D. W.;
    • Narayanan, V.
    Publication type:
    Article
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    Incidence of Fragile X syndrome in Ireland.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 678, doi. 10.1002/ajmg.a.38081
    By:
    • O'Byrne, James J.;
    • Sweeney, Michael;
    • Donnelly, Deirdre E.;
    • Lambert, Deborah M.;
    • Beattie, Eleanor D.;
    • Gervin, Celine M.;
    • Barton, David E.;
    • Lynch, Sally A.
    Publication type:
    Article
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    TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 771, doi. 10.1002/ajmg.a.38083
    By:
    • Farach, Laura S.;
    • Gibson, William T.;
    • Sparagana, Steven P.;
    • Nellist, Mark;
    • Stumpel, Connie T. R. M.;
    • Hietala, Marja;
    • Friedman, Elliott;
    • Pearson, Deborah A.;
    • Creighton, Susan P.;
    • Wagemans, Annemiek;
    • Segel, Reveel;
    • Ben‐Shalom, Efrat;
    • Au, Kit Sing;
    • Northrup, Hope
    Publication type:
    Article
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    Constitutional bone impairment in Noonan syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 692, doi. 10.1002/ajmg.a.38086
    By:
    • Baldassarre, Giuseppina;
    • Mussa, Alessandro;
    • Carli, Diana;
    • Molinatto, Cristina;
    • Ferrero, Giovanni Battista
    Publication type:
    Article
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    Cover Image, Volume 173A, Number 3, March 2017.

    Published in:
    2017
    By:
    • Salian, Smrithi;
    • Cho, Tae‐Joon;
    • Phadke, Shubha R.;
    • Gowrishankar, Kalpana;
    • Bhavani, Gandham SriLakshmi;
    • Shukla, Anju;
    • Jagadeesh, Sujatha;
    • Kim, Ok‐Hwa;
    • Nishimura, Gen;
    • Girisha, Katta M.
    Publication type:
    Other
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    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
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    CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 661, doi. 10.1002/ajmg.a.38005
    By:
    • Vilboux, Thierry;
    • Malicdan, May Christine V.;
    • Roney, Joseph C.;
    • Cullinane, Andrew R.;
    • Stephen, Joshi;
    • Yildirimli, Deniz;
    • Bryant, Joy;
    • Fischer, Roxanne;
    • Vemulapalli, Meghana;
    • Mullikin, James C.;
    • Steinbach, Peter J.;
    • Gahl, William A.;
    • Gunay‐Aygun, Meral
    Publication type:
    Article
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    Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 601, doi. 10.1002/ajmg.a.37991
    By:
    • Tenorio, Jair;
    • Álvarez, Ignacio;
    • Riancho‐Zarrabeitia, Leyre;
    • Martos‐Moreno, Gabriel Á.;
    • Mandrile, Giorgia;
    • de la Flor Crespo, Monserrat;
    • Sukchev, Mikhail;
    • Sherif, Mostafa;
    • Kramer, Iza;
    • Darnaude‐Ortiz, María T.;
    • Arias, Pedro;
    • Gordo, Gema;
    • Dapía, Irene;
    • Martinez‐Villanueva, Julián;
    • Gómez, Rubén;
    • Iturzaeta, José Manuel;
    • Otaify, Ghada;
    • García‐Unzueta, Mayte;
    • Rubinacci, Alessandro;
    • Riancho, José A.
    Publication type:
    Article
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    Spectrum of mutations in the SMPD1 gene in Asian Indian patients with acid sphingomyelinase deficient Niemann-Pick disease.

    Published in:
    American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 829, doi. 10.1002/ajmg.a.38040
    By:
    • Ranganath, Prajnya;
    • Matta, Divya;
    • Bhavani, Gandham SriLakshmi;
    • Wangnekar, Savita;
    • Jain, Jamal Mohammed Nurul;
    • Verma, Ishwar C.;
    • Kabra, Madhulika;
    • Puri, Ratna D.;
    • Danda, Sumita;
    • Gupta, Neerja;
    • Girisha, Katta M.;
    • Sankar, Vaikom H.;
    • Patil, Siddaramappa J.;
    • Devi, Akella Radha Rama;
    • Bhat, Meenakshi;
    • Gowrishankar, Kalpana;
    • Mandal, Kausik;
    • Aggarwal, Shagun;
    • Tamhankar, Parag Mohan;
    • Tilak, Preetha
    Publication type:
    Article
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