Works matching IS 15524868 AND DT 2019 AND VI 181 AND IP 4

Results: 23

Cover Image, Volume 181, Number 4, December 2019.

Published in:: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. i, doi. 10.1002/ajmg.c.31695
Publication type:: Article

Approach to overgrowth syndromes in the genome era.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 483, doi. 10.1002/ajmg.c.31757

By:

Burkardt, Deepika D.;
Tatton‐Brown, Katrina;
Dobyns, William;
Graham, John M.

Publication type:

Article

X‐linked duplication copy number variation in a familial overgrowth condition.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 644, doi. 10.1002/ajmg.c.31756

By:

Ha, Thoa K.;
Mardy, Anne H.;
Beleford, Daniah;
Spanier, Andrew;
Wayman, Brette V.;
Penon‐Portmann, Monica;
Wiita, Arun P.;
Shieh, Joseph T.

Publication type:

Article

Kosaki overgrowth syndrome: A newly identified entity caused by pathogenic variants in platelet‐derived growth factor receptor‐beta.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 650, doi. 10.1002/ajmg.c.31755

By:

Takenouchi, Toshiki;
Okuno, Hironobu;
Kosaki, Kenjiro

Publication type:

Article

PRC2‐complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 519, doi. 10.1002/ajmg.c.31754

By:

Cyrus, Sharri;
Burkardt, Deepika;
Weaver, David D.;
Gibson, William T.

Publication type:

Article

Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 658, doi. 10.1002/ajmg.c.31753

By:

Grange, Dorothy K.;
Roessler, Helen I.;
McClenaghan, Conor;
Duran, Karen;
Shields, Kathleen;
Remedi, Maria S.;
Knoers, Nine V. A. M.;
Lee, Jin‐Moo;
Kirk, Edwin P.;
Scurr, Ingrid;
Smithson, Sarah F.;
Singh, Gautam K.;
Haelst, Mieke M.;
Nichols, Colin G.;
Haaften, Gijs

Publication type:

Article

The NuRD complex and macrocephaly associated neurodevelopmental disorders.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 548, doi. 10.1002/ajmg.c.31752

By:

Pierson, Tyler Mark;
Otero, Maria G.;
Grand, Katheryn;
Choi, Andrew;
Graham, John M.;
Young, Juan I.;
Mackay, Joel P.

Publication type:

Article

EML1‐associated brain overgrowth syndrome with ribbon‐like heterotopia.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 627, doi. 10.1002/ajmg.c.31751

By:

Oegema, Renske;
McGillivray, George;
Leventer, Richard;
Le Moing, Anne‐Gaëlle;
Bahi‐Buisson, Nadia;
Barnicoat, Angela;
Mandelstam, Simone;
Francis, David;
Francis, Fiona;
Mancini, Grazia M. S.;
Savelberg, Sanne;
Haaften, Gijs;
Mankad, Kshitij;
Lequin, Maarten H.

Publication type:

Article

Null variants and deletions in BRWD3 cause an X‐linked syndrome of mild–moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 638, doi. 10.1002/ajmg.c.31750

By:

Ostrowski, Philip J.;
Zachariou, Anna;
Loveday, Chey;
Baralle, Diana;
Blair, Edward;
Douzgou, Sofia;
Field, Michael;
Foster, Alison;
Kyle, Claire;
Lachlan, Katherine;
Mansour, Sahar;
Naik, Swati;
Rea, Gillian;
Smithson, Sarah;
Sznajer, Yves;
Thompson, Elizabeth;
Cole, Trevor;
Tatton‐Brown, Katrina

Publication type:

Article

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 557, doi. 10.1002/ajmg.c.31749

By:

Ostrowski, Philip J.;
Zachariou, Anna;
Loveday, Chey;
Beleza‐Meireles, Ana;
Bertoli, Marta;
Dean, John;
Douglas, Andrew G. L.;
Ellis, Ian;
Foster, Alison;
Graham, John M.;
Hague, Jennifer;
Hilhorst‐Hofstee, Yvonne;
Hoffer, Mariette;
Johnson, Diana;
Josifova, Dragana;
Kant, Sarina G.;
Kini, Usha;
Lachlan, Katherine;
Lam, Wayne;
Lees, Melissa

Publication type:

Article

Rare SUZ12 variants commonly cause an overgrowth phenotype.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 532, doi. 10.1002/ajmg.c.31748

By:

Cyrus, Sharri S.;
Cohen, Ana S. A.;
Agbahovbe, Ruky;
Avela, Kristiina;
Yeung, Kit S.;
Chung, Brian H. Y.;
Luk, Ho‐Ming;
Tkachenko, Nataliya;
Choufani, Sanaa;
Weksberg, Rosanna;
Lopez‐Rangel, Elena;
Brown, Kathleen;
Saenz, Margarita S.;
Svihovec, Shayna;
McCandless, Shawn E.;
Bird, Lynne M.;
Garcia, Aixa Gonzalez;
Gambello, Michael J.;
McWalter, Kirsty;
Schnur, Rhonda E.

Publication type:

Article

Variants in nuclear factor I genes influence growth and development.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 611, doi. 10.1002/ajmg.c.31747

By:

Zenker, Martin;
Bunt, Jens;
Schanze, Ina;
Schanze, Denny;
Piper, Michael;
Priolo, Manuela;
Gerkes, Erica H.;
Gronostajski, Richard M.;
Richards, Linda J.;
Vogt, Julie;
Wessels, Marja W.;
Hennekam, Raoul C.

Publication type:

Article

SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 509, doi. 10.1002/ajmg.c.31746

By:

Marzin, Pauline;
Rondeau, Sophie;
Aldinger, Kimberly A.;
Alessandri, Jean‐Luc;
Isidor, Bertrand;
Heron, Delphine;
Keren, Boris;
Dobyns, William B.;
Cormier‐Daire, Valérie

Publication type:

Article

Epigenetic signatures in overgrowth syndromes: Translational opportunities.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 491, doi. 10.1002/ajmg.c.31745

By:

Cytrynbaum, Cheryl;
Choufani, Sanaa;
Weksberg, Rosanna

Publication type:

Article

A dyadic genotype–phenotype approach to diagnostic criteria for Proteus syndrome.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 565, doi. 10.1002/ajmg.c.31744

By:

Sapp, Julie C.;
Buser, Anna;
Burton‐Akright, Jasmine;
Keppler‐Noreuil, Kim M.;
Biesecker, Leslie G.

Publication type:

Article

Thrombosis risk factors in PIK3CA‐related overgrowth spectrum and Proteus syndrome.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 571, doi. 10.1002/ajmg.c.31735

By:

Keppler‐Noreuil, Kim M.;
Lozier, Jay;
Oden, Neal;
Taneja, Anjali;
Burton‐Akright, Jasmine;
Sapp, Julie C.;
Biesecker, Leslie G.

Publication type:

Article

Publication schedule for 2019.

Published in:: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 482, doi. 10.1002/ajmg.c.31646
Publication type:: Article

PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 591, doi. 10.1002/ajmg.c.31743

By:

Macken, William L.;
Tischkowitz, Marc;
Lachlan, Katherine L.

Publication type:

Article

Congenital hyperinsulinism disorders: Genetic and clinical characteristics.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 682, doi. 10.1002/ajmg.c.31737

By:

Rosenfeld, Elizabeth;
Ganguly, Arupa;
De Leon, Diva D.

Publication type:

Article

Megalencephaly syndromes associated with mutations of core components of the PI3K‐AKT–MTOR pathway: PIK3CA, PIK3R2, AKT3, and MTOR.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 582, doi. 10.1002/ajmg.c.31736

By:

Dobyns, William B.;
Mirzaa, Ghayda M.

Publication type:

Article

Table of Contents, Volume 181, Number 4, December 2019.

Published in:: American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 479, doi. 10.1002/ajmg.c.31645
Publication type:: Article

Characterization of the Beckwith‐Wiedemann spectrum: Diagnosis and management.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 693, doi. 10.1002/ajmg.c.31740

By:

Duffy, Kelly A.;
Cielo, Christopher M.;
Cohen, Jennifer L.;
Gonzalez‐Gandolfi, Christina X.;
Griff, Jessica R.;
Hathaway, Evan R.;
Kupa, Jonida;
Taylor, Jesse A.;
Wang, Kathleen H.;
Ganguly, Arupa;
Deardorff, Matthew A.;
Kalish, Jennifer M.

Publication type:

Article

The phenotype of Sotos syndrome in adulthood: A review of 44 individuals.

Published in:

American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 502, doi. 10.1002/ajmg.c.31738

By:

Foster, Alison;
Zachariou, Anna;
Loveday, Chey;
Ashraf, Tazeen;
Blair, Edward;
Clayton‐Smith, Jill;
Dorkins, Huw;
Fryer, Alan;
Gener, Blanca;
Goudie, David;
Henderson, Alex;
Irving, Melita;
Joss, Shelagh;
Keeley, Vaughan;
Lahiri, Nayana;
Lynch, Sally Ann;
Mansour, Sahar;
McCann, Emma;
Morton, Jenny;
Motton, Nicole

Publication type:

Article