Works matching IS 15524825 AND DT 2019 AND VI 179 AND IP 10

Results: 26

Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2112, doi. 10.1002/ajmg.a.61334
By:
- Staretz‐Chacham, Orna;
- Shukrun, Rachel;
- Barel, Ortal;
- Pode‐Shakked, Ben;
- Pleniceanu, Oren;
- Anikster, Yair;
- Shalva, Nechama;
- Ferreira, Carlos R.;
- Ben‐Haim Kadosh, Admit;
- Richardson, Justin;
- Mane, Shrikant M.;
- Hildebrandt, Friedhelm;
- Vivante, Asaf
Publication type:
Article
Cover Image, Volume 179A, Number 10, October 2019.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. N.PAG, doi. 10.1002/ajmg.a.61333
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 1911, doi. 10.1002/ajmg.a.61332
Publication type:
Article
Psychosocial Risks Minimal with Genetic Testing.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 1909, doi. 10.1002/ajmg.a.61331
Publication type:
Article
Associated anomalies in cases with agenesis of the corpus callosum.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2101, doi. 10.1002/ajmg.a.61330
By:
- Stoll, Claude;
- Dott, Beatrice;
- Roth, Marie‐Paule
Publication type:
Article
Maternal ornithine transcarbamylase deficiency, a genetic condition associated with high maternal and neonatal mortality every clinician should know: A systematic review.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2091, doi. 10.1002/ajmg.a.61329
By:
- Torkzaban, Mehnoosh;
- Haddad, Andrew;
- Baxter, Jason K.;
- Berghella, Vincenzo;
- Gahl, William A.;
- Al‐Kouatly, Huda B.
Publication type:
Article
Lenz–Majewski syndrome in a patient from Egypt.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2039, doi. 10.1002/ajmg.a.61327
By:
- Afifi, Hanan H.;
- Abdel‐Hamid, Mohamed S.;
- Mehrez, Mennat I.;
- El‐Kamah, Ghada;
- Abdel‐Salam, Ghada M. H.
Publication type:
Article
HIST1H1E heterozygous protein‐truncating variants cause a recognizable syndrome with intellectual disability and distinctive facial gestalt: A study to clarify the HIST1H1E syndrome phenotype in 30 individuals.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2049, doi. 10.1002/ajmg.a.61321
By:
- Burkardt, Deepika D'Cunha;
- Zachariou, Anna;
- Loveday, Chey;
- Allen, Clare L.;
- Amor, David J.;
- Ardissone, Anna;
- Banka, Siddharth;
- Bourgois, Alexia;
- Coubes, Christine;
- Cytrynbaum, Cheryl;
- Faivre, Laurence;
- Marion, Gerard;
- Horton, Rachel;
- Kotzot, Dieter;
- Lay‐Son, Guillermo;
- Lees, Melissa;
- Low, Karen;
- Luk, Ho‐Ming;
- Mark, Paul;
- McConkie‐Rosell, Allyn
Publication type:
Article
Coffin–Lowry syndrome in Chinese.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2043, doi. 10.1002/ajmg.a.61323
By:
- Fung, Jasmine L. F.;
- Rethanavelu, Kavitha;
- Luk, Ho‐ming;
- Ho, Matthew S. P.;
- Lo, Ivan F. M.;
- Chung, Brian H. Y.
Publication type:
Article
Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 1913, doi. 10.1002/ajmg.a.61316
By:
- Dure‐Molla, Muriel;
- Fournier, Benjamin Philippe;
- Manzanares, Maria Cristina;
- Acevedo, Ana Carolina;
- Hennekam, Raoul C.;
- Friedlander, Lisa;
- Boy‐Lefèvre, Marie‐Laure;
- Kerner, Stephane;
- Toupenay, Steve;
- Garrec, Pascal;
- Vi‐Fane, Brigite;
- Felizardo, Rufino;
- Berteretche, Marie‐Violaine;
- Jordan, Laurence;
- Ferré, François;
- Clauss, François;
- Jung, Sophie;
- Chalendar, Myriam;
- Troester, Sebastien;
- Kawczynski, Marzena
Publication type:
Article
Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle‐opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2056, doi. 10.1002/ajmg.a.61315
By:
- Karaca, Ender;
- Posey, Jennifer E.;
- Bostwick, Bret;
- Liu, Pengfei;
- Gezdirici, Alper;
- Yesil, Gozde;
- Coban Akdemir, Zeynep;
- Bayram, Yavuz;
- Harms, Frederike L.;
- Meinecke, Peter;
- Alawi, Malik;
- Bacino, Carlos A.;
- Sutton, V. Reid;
- Kortüm, Fanny;
- Lupski, James R.
Publication type:
Article
Recognition and management of adults with Turner syndrome: From the transition of adolescence through the senior years.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 1987, doi. 10.1002/ajmg.a.61310
By:
- Lin, Angela E.;
- Prakash, Siddharth K.;
- Andersen, Niels H.;
- Viuff, Mette H.;
- Levitsky, Lynne L.;
- Rivera‐Davila, Michelle;
- Crenshaw, Melissa L.;
- Hansen, Lars;
- Colvin, Mary K.;
- Hayes, Frances J.;
- Lilly, Evelyn;
- Snyder, Emma A.;
- Nader‐Eftekhari, Shahla;
- Aldrich, Melissa B.;
- Bhatt, Ami B.;
- Prager, Laura M.;
- Arenivas, Ana;
- Skakkebaek, Anne;
- Steeves, Marcie A.;
- Kreher, Jeffrey B.
Publication type:
Article
SOS1 mutations in Noonan syndrome: Cardiomyopathies and not only congenital heart defects! Report of six patients including two novel variants and literature review.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2083, doi. 10.1002/ajmg.a.61312
By:
- Baban, Anwar;
- Olivini, Nicole;
- Lepri, Francesca Romana;
- Calì, Federica;
- Mucciolo, Mafalda;
- Digilio, Maria C.;
- Calcagni, Giulio;
- di Mambro, Corrado;
- Dallapiccola, Bruno;
- Adorisio, Rachele;
- Novelli, Antonio;
- Drago, Fabrizio
Publication type:
Article
Ellis‐van Creveld syndrome in a patient from Tanzania.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2034, doi. 10.1002/ajmg.a.61309
By:
- Dekker, Marieke C. J.;
- Sadiq, Adnan M.;
- Jusabani, Mubashir A.;
- Mdavire, Vivian J.;
- Baas, Frank;
- Morton, David H.;
- Hamel, Ben C. J.
Publication type:
Article
Objective measures of sleep disturbances in children with Potocki–Lupski syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 1982, doi. 10.1002/ajmg.a.61307
By:
- Kaplan, Kevin;
- McCool, Caroline;
- Lupski, James R.;
- Glaze, Daniel;
- Potocki, Lorraine
Publication type:
Article
Phenotype delineation of ZNF462 related syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2075, doi. 10.1002/ajmg.a.61306
By:
- Kruszka, Paul;
- Hu, Tommy;
- Hong, Sungkook;
- Signer, Rebecca;
- Cogné, Benjamin;
- Isidor, Betrand;
- Mazzola, Sarah E.;
- Giltay, Jacques C.;
- Gassen, Koen L. I.;
- England, Eleina M.;
- Pais, Lynn;
- Ockeloen, Charlotte W.;
- Sanchez‐Lara, Pedro A.;
- Kinning, Esther;
- Adams, Darius J.;
- Treat, Kayla;
- Torres‐Martinez, Wilfredo;
- Bedeschi, Maria F.;
- Iascone, Maria;
- Blaney, Stephanie
Publication type:
Article
Anthropometric characteristics of newborns with Prader–Willi syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2067, doi. 10.1002/ajmg.a.61304
By:
- Salvatoni, Alessandro;
- Moretti, Alex;
- Grugni, Graziano;
- Agosti, Massimo;
- Azzolini, Sara;
- Bonaita, Valentina;
- Cianci, Paola;
- Corica, Domenico;
- Crinò, Antonino;
- Delvecchio, Maurizio;
- Ferraris, Silvio;
- Greggio, Nella A.;
- Iughetti, Lorenzo;
- Licenziati, Maria R.;
- Madeo, Simona F.;
- Nosetti, Luana;
- Pajno, Roberta;
- Rutigliano, Irene;
- Sacco, Michele;
- Salvatore, Silvia
Publication type:
Article
Parental gonadal but not somatic mosaicism leading to de novo NFIX variants shared by two brothers with Malan syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2119, doi. 10.1002/ajmg.a.61302
By:
- Hancarova, Miroslava;
- Havlovicova, Marketa;
- Putzova, Martina;
- Vseticka, Jan;
- Prchalova, Darina;
- Stranecky, Viktor;
- Sedlacek, Zdenek
Publication type:
Article
Fetal diagnosis of Mowat‐Wilson syndrome by whole exome sequencing.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2152, doi. 10.1002/ajmg.a.61295
By:
- Evans, Carey‐Anne;
- Pinner, Jason;
- Chan, Cheng Y.;
- Bowyer, Lucy;
- Mowat, David;
- Buckley, Michael F.;
- Roscioli, Tony
Publication type:
Article
Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2138, doi. 10.1002/ajmg.a.61288
By:
- Pillai, Nishitha R.;
- AlDhaheri, Noura S.;
- Ghosh, Rajarshi;
- Lim, Jaehyung;
- Streff, Haley;
- Nayak, Anuranjita;
- Graham, Brett H.;
- Hanchard, Neil A.;
- Elsea, Sarah H.;
- Scaglia, Fernando
Publication type:
Article
Fragile X syndrome in a male with methylated premutation alleles and no detectable methylated full mutation alleles.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2132, doi. 10.1002/ajmg.a.61286
By:
- Hayward, Bruce;
- Loutaev, Inna;
- Ding, Xiaohua;
- Nolin, Sarah L.;
- Thurm, Audrey;
- Usdin, Karen;
- Smith, Carolyn B.
Publication type:
Article
Clinical and molecular analysis in Papillon–Lefèvre syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2124, doi. 10.1002/ajmg.a.61285
By:
- Machado, Renato A.;
- Cuadra‐Zelaya, Florence J. M.;
- Martelli‐Júnior, Hercílio;
- Miranda, Roseli T.;
- Casarin, Renato C. V.;
- Corrêa, Mônica G.;
- Nociti, Francisco;
- Coletta, Ricardo D.
Publication type:
Article
Study of carrier frequency of Warsaw breakage syndrome in the Ashkenazi Jewish population and presentation of two cases.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2144, doi. 10.1002/ajmg.a.61284
By:
- Rabin, Rachel;
- Hirsch, Yoel;
- Johansson, Martin M.;
- Ekstein, Joseph;
- Zeevi, David A.;
- Keena, Beth;
- Zackai, Elaine H.;
- Pappas, John
Publication type:
Article
Birth Defects Associated with Higher Risk of Childhood Cancers: Forty specific birth defect–childhood cancer associations were identified as statistically significant.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 1908, doi. 10.1002/ajmg.a.40462
Publication type:
Article
Publication schedule for 2019.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 1907, doi. 10.1002/ajmg.a.40461
Publication type:
Article
Table of Contents, Volume 179A, Number 10, October 2019.
Published in:
American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 1903, doi. 10.1002/ajmg.a.40460
Publication type:
Article