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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
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
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
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
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
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
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
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
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
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
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
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
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