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Select item 33639571.

Expanding the Spectrum of Rearrangements Involving Chromosome 19: A Mild Phenotype Associated with a 19p13.12–p13.13 Deletion

Giuseppe Marangi, Daniela Orteschi, Federico Vigevano, Jillian Felie, Christopher A Walsh, M Chiara Manzini, Giovanni Neri

Am J Med Genet A. 2012 Apr; 158A(4): 888–893. Published online 2012 Mar 14. doi: 10.1002/ajmg.a.35254

PMCID:: PMC3363957

Abstract Article PDF–413K

Select item 47274432.

ARMC5 Mutations in Macronodular Adrenal Hyperplasia with Cushing’s Syndrome

Guillaume Assié, Rossella Libé, Stéphanie Espiard, Marthe Rizk-Rabin, Anne Guimier, Windy Luscap, Olivia Barreau, Lucile Lefèvre, Mathilde Sibony, Laurence Guignat, Stéphanie Rodriguez, Karine Perlemoine, Fernande René-Corail, Franck Letourneur, Bilal Trabulsi, Alix Poussier, Nathalie Chabbert-Buffet, Françoise Borson-Chazot, Lionel Groussin, Xavier Bertagna, Constantine A. Stratakis, Bruno Ragazzon, Jérôme Bertherat

N Engl J Med. Author manuscript; available in PMC 2016 Jan 26.

Published in final edited form as: N Engl J Med. 2013 Nov 28; 369(22): 2105–2114. doi: 10.1056/NEJMoa1304603

PMCID:: PMC4727443

Abstract Article PDF–712K

Select item 45725153.

The ARMC5 gene shows extensive genetic variance in primary macronodular adrenocortical hyperplasia

Ricardo Correa, Mihail Zilbermint, Annabel Berthon, Stephanie Espiard, Maria Batsis, Georgios Z. Papadakis, Paraskevi Xekouki, Maya B. Lodish, Jerome Bertherat, Fabio R. Faucz, Constantine A. Stratakis

Eur J Endocrinol. Author manuscript; available in PMC 2015 Oct 1.

Published in final edited form as: Eur J Endocrinol. 2015 Oct; 173(4): 435–440. Published online 2015 Jul 10. doi: 10.1530/EJE-15-0205

PMCID:: PMC4572515

Abstract Article PDF–811K

Select item 45316334.

A Typical Korean Case of Carney Complex

Hyun Dae Yoon, Ho Sang Shon

Korean J Intern Med. 2003 Dec; 18(4): 260–265. doi: 10.3904/kjim.2003.18.4.260

PMCID:: PMC4531633

Abstract Article PDF–2.7M

Select item 44979465.

MEN1, MEN4, and Carney Complex: Pathology and Molecular Genetics

Marie Helene Schernthaner-Reiter, Giampaolo Trivellin, Constantine A. Stratakis

Neuroendocrinology. Author manuscript; available in PMC 2017 Jan 1.

Published in final edited form as: Neuroendocrinology. 2016; 103(1): 18–31. Published online 2015 Jan 9. doi: 10.1159/000371819

PMCID:: PMC4497946

Abstract Article PDF–371K

Select item 44281496.

Germline PRKACA amplification causes variable phenotypes that may depend on the extent of the genomic defect: molecular mechanisms and clinical presentations

Maya B. Lodish, Bo Yuan, Isaac Levy, Glenn D. Braunstein, Charalampos Lyssikatos, Paraskevi Salpea, Eva Szarek, Alexander S. Karageorgiadis, Elena Belyavskaya, Margarita Raygada, Fabio Rueda Faucz, Louise Izatt, Caroline Brain, James Gardner, Martha Quezado, J. Aidan Carney, James R. Lupski, Constantine A. Stratakis

Eur J Endocrinol. Author manuscript; available in PMC 2015 Dec 1.

Published in final edited form as: Eur J Endocrinol. 2015 Jun; 172(6): 803–811. doi: 10.1530/EJE-14-1154

PMCID:: PMC4428149

Abstract Article PDF–829K

Select item 40421827.

Familial Micronodular Adrenocortical Disease, Cushing Syndrome, and Mutations of the Gene Encoding Phosphodiesterase 11A4 (PDE11A)

J. Aidan Carney, Rolf C. Gaillard, Jérôme Bertherat, Constantine A. Stratakis

Am J Surg Pathol. Author manuscript; available in PMC 2014 Jun 3.

Published in final edited form as: Am J Surg Pathol. 2010 Apr; 34(4): 547–555. doi: 10.1097/PAS.0b013e3181d31f49

PMCID:: PMC4042182

Abstract Article PDF–1.4M

Select item 39635578.

A novel immunodeficiency syndrome associated with partial trisomy 19p13

Markus G Seidel, Celia Duerr, Stavroula Woutsas, Anette Schwerin-Nagel, Kambis Sadeghi, Jürgen Neesen, Sabine Uhrig, Elisangela Santos-Valente, Winfried F Pickl, Wolfgang Schwinger, Christian Urban, Kaan Boztug, Elisabeth Förster-Waldl

J Med Genet. 2014 Apr; 51(4): 254–263. Published online 2014 Jan 15. doi: 10.1136/jmedgenet-2013-102122

PMCID:: PMC3963557

Abstract Article PDF–2.9M

Select item 36268299.

Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome

Cristina Gervasini, Chiara Picinelli, Jacopo Azzollini, Daniela Rusconi, Maura Masciadri, Anna Cereda, Cinzia Marzocchi, Giuseppe Zampino, Angelo Selicorni, Romano Tenconi, Silvia Russo, Lidia Larizza, Palma Finelli

BMC Med Genet. 2013; 14: 41. Published online 2013 Apr 3. doi: 10.1186/1471-2350-14-41

PMCID:: PMC3626829

Abstract Article PDF–507K

Select item 479519710.

PIAS4 is associated with macro/microcephaly in the novel interstitial 19p13.3 microdeletion/microduplication syndrome

Julián Nevado, Jill A Rosenfeld, Rocío Mena, María Palomares-Bralo, Elena Vallespín, María Ángeles Mori, Jair A Tenorio, Karen W Gripp, Elizabeth Denenberg, Miguel del Campo, Alberto Plaja, Rubén Martín-Arenas, Fernando Santos-Simarro, Lluis Armengol, Gordon Gowans, María Orera, M Carmen Sanchez-Hombre, Esther Corbacho-Fernández, Alberto Fernández-Jaén, Chad Haldeman-Englert, Sulagna Saitta, Holly Dubbs, Duban B Bénédicte, Xia Li, Lani Devaney, Mary Beth Dinulos, Stephanie Vallee, M Carmen Crespo, Blanca Fernández, Victoria E Fernández-Montaño, Inmaculada Rueda-Arenas, María Luisa de Torres, Jay W Ellison, Salmo Raskin, Carlos A Venegas-Vega, Fernando Fernández-Ramírez, Alicia Delicado, Sixto García-Miñaúr, Pablo Lapunzina

Eur J Hum Genet. 2015 Dec; 23(12): 1615–1626. Published online 2015 Apr 8. doi: 10.1038/ejhg.2015.51

PMCID:: PMC4795197

Abstract Article PDF–1.3M

Select item 331918311.

Activation of Cyclic AMP Signaling Leads to Different Pathway Alterations in Lesions of the Adrenal Cortex Caused by Germline PRKAR1A Defects versus Those due to Somatic GNAS Mutations

Madson Q. Almeida, Monalisa F. Azevedo, Paraskevi Xekouki, Eirini I. Bimpaki, Anelia Horvath, Michael T. Collins, Lefkothea P. Karaviti, George S. Jeha, Nisan Bhattacharyya, Chris Cheadle, Tonya Watkins, Isabelle Bourdeau, Maria Nesterova, Constantine A. Stratakis

J Clin Endocrinol Metab. 2012 Apr; 97(4): E687–E693. Published online 2012 Jan 18. doi: 10.1210/jc.2011-3000

PMCID:: PMC3319183

Abstract Article

Select item 313487912.

Phosphodiesterase 11A (PDE11A) and Genetic Predisposition to Adrenocortical Tumors

Rossella Libé, Amato Fratticci, Joel Coste, Frédérique Tissier, Anelia Horvath, Bruno Ragazzon, Fernande Rene-Corail, Lionel Groussin, Xavier Bertagna, Marie Laure Raffin-Sanson, Constantine A. Stratakis, Jérome Bertherat

Clin Cancer Res. Author manuscript; available in PMC 2011 Jul 13.

Published in final edited form as: Clin Cancer Res. 2008 Jun 15; 14(12): 4016–4024. doi: 10.1158/1078-0432.CCR-08-0106

PMCID:: PMC3134879

Abstract Article PDF–1.4M

Select item 313288413.

Cushing syndrome caused by adrenocortical tumors and hyperplasias (corticotrophin-independent Cushing syndrome)

Constantine A. Stratakis

Endocr Dev. Author manuscript; available in PMC 2011 Jul 11.

Published in final edited form as: Endocr Dev. 2008; 13: 117–132. doi: 10.1159/000134829

PMCID:: PMC3132884

Abstract Article PDF–4.6M

Select item 312933314.

Clinically detectable copy number variations in a Canadian catchment population of schizophrenia

Anne S. Bassett, Gregory Costain, Wai Lun Alan Fung, Kathryn J. Russell, Laura Pierce, Ronak Kapadia, Ronald F. Carter, Eva W.C. Chow, Pamela J. Forsythe

J Psychiatr Res. Author manuscript; available in PMC 2011 Jul 4.

Published in final edited form as: J Psychiatr Res. 2010 Nov; 44(15): 1005–1009. doi: 10.1016/j.jpsychires.2010.06.013

PMCID:: PMC3129333

Abstract Article PDF–74K

Select item 309378115.

Glucose-dependent insulinotropic peptide receptor overexpression in adrenocortical hyperplasia in MEN1 syndrome without loss of heterozygosity at the 11q13 locus

Marcia Helena Soares Costa, Sorahia Domenice, Rodrigo Almeida Toledo, Delmar Muniz Lourenço, Jr, Ana Claudia Latronico, Emilia Modolo Pinto, Sergio Pereira Almeida Toledo, Berenice Bilharinho Mendonca, Maria Candida Barisson Villares Fragoso

Clinics (Sao Paulo) 2011 Apr; 66(4): 529–533. doi: 10.1590/S1807-59322011000400002

Correction in:: Clinics (Sao Paulo). 2011 Dec; 66(12): 2183.

PMCID:: PMC3093781

Abstract Article PDF–143K

Select item 306570116.

Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISH

Nicholas J. Neill, Blake C. Ballif, Allen N. Lamb, Sumit Parikh, J. Britt Ravnan, Roger A. Schultz, Beth S. Torchia, Jill A. Rosenfeld, Lisa G. Shaffer

Genome Res. 2011 Apr; 21(4): 535–544. doi: 10.1101/gr.114579.110

PMCID:: PMC3065701

Abstract Article PDF–1.0M

Select item 298648617.

An 8.9 Mb 19p13 duplication associated with precocious puberty and a sporadic 3.9 Mb 2q23.3q24.1 deletion containing NR4A2 in mentally retarded members of a family with an intrachromosomal 19p-into-19q between-arm insertion

Helle Lybæk, Karen Helene ørstavik, Trine Prescott, Randi Hovland, Harald Breilid, Christine Stansberg, Vidar Martin Steen, Gunnar Houge

Eur J Hum Genet. 2009 Jul; 17(7): 904–910. Published online 2009 Jan 21. doi: 10.1038/ejhg.2008.261

PMCID:: PMC2986486

Abstract Article PDF–329K

Select item 280548518.

ACTH-Independent Cushing’s Syndrome with Bilateral Micronodular Adrenal Hyperplasia and Ectopic Adrenocortical Adenoma

Estelle Louiset, Françoise Gobet, Rossella Libé, Anelia Horvath, Sylvie Renouf, Juliette Cariou, Anya Rothenbuhler, Jérôme Bertherat, Eric Clauser, Philippe Grise, Constantine A. Stratakis, Jean-Marc Kuhn, Hervé Lefebvre

J Clin Endocrinol Metab. 2010 Jan; 95(1): 18–24. Published online 2009 Nov 13. doi: 10.1210/jc.2009-0881

PMCID:: PMC2805485

Abstract Article

Select item 661547519.

High expression of adrenal P450 aromatase (CYP19A1) in association with ARMC5-primary bilateral macronodular adrenocortical hyperplasia

Annabel Berthon, Fady Hannah-Shmouni, Andrea Gutierrez Maria, Fabio R. Faucz, Constantine A. Stratakis

J Steroid Biochem Mol Biol. Author manuscript; available in PMC 2020 Jul 1.

Published in final edited form as: J Steroid Biochem Mol Biol. 2019 Jul; 191: 105316. Published online 2019 Apr 20. doi: 10.1016/j.jsbmb.2019.02.011

PMCID:: PMC6615475

Abstract Article PDF–876K

Select item 1091680320.

Germline PRKACA amplification-associated primary pigmented nodular adrenocortical disease: a case report and literature review

Wang-Rong Yang, Xing-Huan Liang, Ying-Fen Qin, Hai-Yan Yang, Shu-Zhan He, Zhen-Xing Huang, Yu-Ping Liu, Zuo-Jie Luo

Arch Endocrinol Metab. 2024; 68: e220491. Published online 2023 Dec 1. doi: 10.20945/2359-4292-2022-0491

PMCID:: PMC10916803

Abstract Article PDF–2.1M

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