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

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

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

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

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

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

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

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

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

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

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

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

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

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