Works matching IS 15524825 AND DT 2018 AND VI 176 AND IP 10

Results: 25

Cover Image, Volume 176A, Number 10, October 2018.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. i, doi. 10.1002/ajmg.a.60697
By:
- Campbell, Ian M.;
- Sheppard, Sarah E.;
- Crowley, T. Blaine;
- McGinn, Daniel E.;
- Bailey, Alice;
- McGinn, Michael J.;
- Unolt, Marta;
- Homans, Jelle F.;
- Chen, Erin Y.;
- Salmons, Harold I.;
- Gaynor, J. William;
- Goldmuntz, Elizabeth;
- Jackson, Oksana A.;
- Katz, Lorraine E.;
- Mascarenhas, Maria R.;
- Deeney, Vincent F. X.;
- Castelein, René M.;
- Zur, Karen B.;
- Elden, Lisa;
- Kallish, Staci
Publication type:
Article
Novel Gene‐Editing Technique Cures β‐Thalassemia in Utero: A novel peptide nucleic acid‐based gene–editing technique using a nanoparticle delivery system seemingly cured beta thalassemia in fetal mice.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2052, doi. 10.1002/ajmg.a.40655
Publication type:
Article
Providers Unprepared for Interpreting Unsolicited Genomic Results: Direct‐to‐consumer testing has increased the number of individuals getting genetic testing in the absence of medical concerns yet turning to their providers for interpretation of results
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2051, doi. 10.1002/ajmg.a.40654
Publication type:
Article
22q11.2 deletion syndrome: A tiny piece leading to a big picture.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2055, doi. 10.1002/ajmg.a.40653
By:
- McDonald‐McGinn, Donna M.
Publication type:
Article
Association of hypocalcemia with congenital heart disease in 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2099, doi. 10.1002/ajmg.a.40495
By:
- Rayannavar, Arpana;
- Levitt Katz, Lorraine E.;
- Crowley, Terrence Blaine;
- Lessig, Megan;
- Grand, Katheryn;
- Goldmuntz, Elizabeth;
- Zackai, Elaine H.;
- McDonald‐McGinn, Donna M.
Publication type:
Article
Club foot in association with the 22q11.2 deletion syndrome: An observational study.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2135, doi. 10.1002/ajmg.a.40649
By:
- Homans, Jelle F.;
- Crowley, Terrence B.;
- Chen, Erin;
- McGinn, Daniel E.;
- Deeney, Vincent F. X.;
- Sakkers, Ralph J. B.;
- Davidson, Richard S.;
- Castelein, René M.;
- McDonald‐McGinn, Donna M.
Publication type:
Article
The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2167, doi. 10.1002/ajmg.a.40535
By:
- Grand, Katheryn;
- Levitt Katz, Lorraine E.;
- Crowley, T. Blaine;
- Moss, Edward;
- Lessig, Megan;
- Bamba, Vaneeta;
- Lord, Katherine;
- Zackai, Elaine H.;
- Emanuel, Beverly S.;
- Valverde, Kathleen;
- McDonald‐McGinn, Donna M.
Publication type:
Article
Otolaryngological features in a cohort of patients affected with 22q11.2 deletion syndrome: A monocentric survey.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2128, doi. 10.1002/ajmg.a.40518
By:
- Grasso, Fiorentino;
- Cirillo, Emilia;
- Quaremba, Giuseppe;
- Graziano, Vincenzo;
- Gallo, Vera;
- Cruoglio, Letizia;
- Botta, Carmine;
- Pignata, Claudio;
- Motta, Sergio
Publication type:
Article
Molecular genetics of 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2070, doi. 10.1002/ajmg.a.40504
By:
- Morrow, Bernice E.;
- McDonald‐McGinn, Donna M.;
- Emanuel, Beverly S.;
- Vermeesch, Joris R.;
- Scambler, Peter J.
Publication type:
Article
22q and two: 22q11.2 deletion syndrome and coexisting conditions.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2203, doi. 10.1002/ajmg.a.40494
By:
- Cohen, Jennifer L.;
- Crowley, Terrence B.;
- McGinn, Daniel E.;
- McDougall, Carey;
- Unolt, Marta;
- Lambert, Michele P.;
- Emanuel, Beverly S.;
- Zackai, Elaine H.;
- McDonald‐McGinn, Donna M.
Publication type:
Article
What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2058, doi. 10.1002/ajmg.a.40637
By:
- Campbell, Ian M.;
- Sheppard, Sarah E.;
- Crowley, T. Blaine;
- McGinn, Daniel E.;
- Bailey, Alice;
- McGinn, Michael J.;
- Unolt, Marta;
- Homans, Jelle F.;
- Chen, Erin Y.;
- Salmons, Harold I.;
- Gaynor, J. William;
- Goldmuntz, Elizabeth;
- Jackson, Oksana A.;
- Katz, Lorraine E.;
- Mascarenhas, Maria R.;
- Deeney, Vincent F. X.;
- Castelein, René M.;
- Zur, Karen B.;
- Elden, Lisa;
- Kallish, Staci
Publication type:
Article
Understanding the pediatric psychiatric phenotype of 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2182, doi. 10.1002/ajmg.a.40387
By:
- Fiksinski, Ania M.;
- Schneider, Maude;
- Murphy, Clodagh M.;
- Armando, Marco;
- Vicari, Stefano;
- Canyelles, Jaume M.;
- Gothelf, Doron;
- Eliez, Stephan;
- Breetvelt, Elemi J.;
- Arango, Celso;
- Vorstman, Jacob A. S.
Publication type:
Article
Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2172, doi. 10.1002/ajmg.a.40359
By:
- Zhao, Yingjie;
- Guo, Tingwei;
- Fiksinski, Ania;
- Breetvelt, Elemi;
- McDonald‐McGinn, Donna M.;
- Crowley, Terrence B.;
- Diacou, Alexander;
- Schneider, Maude;
- Eliez, Stephan;
- Swillen, Ann;
- Breckpot, Jeroen;
- Vermeesch, Joris;
- Chow, Eva W. C.;
- Gothelf, Doron;
- Duijff, Sasja;
- Evers, Rens;
- Amelsvoort, Thérèse A.;
- Bree, Marianne;
- Owen, Michael;
- Niarchou, Maria
Publication type:
Article
Neurodevelopmental outcome in 22q11.2 deletion syndrome and management.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2160, doi. 10.1002/ajmg.a.38709
By:
- Swillen, Ann;
- Moss, Edward;
- Duijff, Sasja
Publication type:
Article
Neuropsychiatric expression and catatonia in 22q11.2 deletion syndrome: An overview and case series.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2146, doi. 10.1002/ajmg.a.38708
By:
- Butcher, Nancy J.;
- Boot, Erik;
- Lang, Anthony E.;
- Andrade, Danielle;
- Vorstman, Jacob;
- McDonald‐McGinn, Donna;
- Bassett, Anne S.
Publication type:
Article
The psychosocial impact of 22q11 deletion syndrome on patients and families: A systematic review.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2215, doi. 10.1002/ajmg.a.38673
By:
- Vo, Oanh Kieu;
- McNeill, Alisdair;
- Vogt, Katharina Sophie
Publication type:
Article
Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well‐established knowledge to new frontiers.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2087, doi. 10.1002/ajmg.a.38662
By:
- Unolt, Marta;
- Versacci, Paolo;
- Anaclerio, Silvia;
- Lambiase, Caterina;
- Calcagni, Giulio;
- Trezzi, Matteo;
- Carotti, Adriano;
- Crowley, Terrence Blaine;
- Zackai, Elaine H.;
- Goldmuntz, Elizabeth;
- Gaynor, James William;
- Digilio, Maria Cristina;
- McDonald‐McGinn, Donna M.;
- Marino, Bruno
Publication type:
Article
Neurologic challenges in 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2140, doi. 10.1002/ajmg.a.38614
By:
- Hopkins, Sarah E.;
- Chadehumbe, Madeline;
- Blaine Crowley, Terrence;
- Zackai, Elaine H.;
- Bilaniuk, Larissa T.;
- McDonald‐McGinn, Donna M.
Publication type:
Article
Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2082, doi. 10.1002/ajmg.a.38597
By:
- Crowley, Blaine;
- Ruffner, Melanie;
- McDonald McGinn, Donna M.;
- Sullivan, Kathleen E.
Publication type:
Article
Orthopaedic manifestations within the 22q11.2 Deletion syndrome: A systematic review.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2104, doi. 10.1002/ajmg.a.38545
By:
- Homans, Jelle F.;
- Tromp, Isabel N.;
- Colo, Dino;
- Schlösser, Tom P. C.;
- Kruyt, Moyo C.;
- Deeney, Vincent F. X.;
- Crowley, Terrence B.;
- McDonald‐McGinn, Donna M.;
- Castelein, René M.
Publication type:
Article
The 22q11.2 deletion syndrome: Cancer predisposition, platelet abnormalities and cytopenias.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2121, doi. 10.1002/ajmg.a.38474
By:
- Lambert, Michele P.;
- Arulselvan, Abinaya;
- Schott, Amanda;
- Markham, Stephen J.;
- Crowley, Terrance B.;
- Zackai, Elaine H.;
- McDonald‐McGinn, Donna M.
Publication type:
Article
Longitudinal perspectives on the psychosis spectrum in 22q11.2 deletion syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2192, doi. 10.1002/ajmg.a.38500
By:
- Tang, Sunny X.;
- Gur, Raquel E.
Publication type:
Article
In This Issue.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2054, doi. 10.1002/ajmg.a.38451
Publication type:
Article
Publication schedule for 2018.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2049, doi. 10.1002/ajmg.a.38449
Publication type:
Article
Table of Contents, Volume 176A, Number 10, October 2018.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 10, p. 2045, doi. 10.1002/ajmg.a.38448
Publication type:
Article