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Items: 1 to 50 of 75

1.

Corrigendum: Transcriptome Analysis Showed a Differential Signature Between Invasive and Non-invasive Corticotrophinomas.

de Araújo LJT, Lerario AM, de Castro M, Martins CS, Bronstein MD, Machado MC, Trarbach EB, Villares Fragoso MCB.

Front Endocrinol (Lausanne). 2019 Aug 22;10:567. doi: 10.3389/fendo.2019.00567. eCollection 2019.

2.

A novel single amino acid deletion impairs fibronectin function and causes familial glomerulopathy with fibronectin deposits: case report of a family.

Dos Reis Monteiro MLG, Custódio FB, de Menezes Neves PDM, Ferreira FM, Watanabe EH, Lerário AM, de Araújo LS, Balbo BEP, Pinto VCD, Barbosa LMG, de Paiva Marques V, Machado JR, Reis MA, Onuchic LF.

BMC Nephrol. 2019 Aug 16;20(1):322. doi: 10.1186/s12882-019-1507-7.

3.

Genetic evidence of the association of DEAH-box helicase 37 defects with 46,XY gonadal dysgenesis spectrum.

Evilen da Silva T, Gomes NL, Lerário AM, Keegan CE, Nishi MY, Carvalho FM, Vilain E, Barseghyanm H, Martinez-Aguayo A, Forclaz MV, Papazian R, Pedroso de Paula LC, Costa EC, Carvalho LR, Jorge AA, Elias F, Mitchell R, Frade Costa EM, Mendonca BB, Domenice S.

J Clin Endocrinol Metab. 2019 Jul 9. pii: jc.2019-00984. doi: 10.1210/jc.2019-00984. [Epub ahead of print]

PMID:
31287541
4.

Evaluation of SHOX defects in the era of next-generation sequencing.

Funari MFA, de Barros JS, Santana LS, Lerario AM, Freire BL, Homma TK, Vasques GA, Mendonca BB, Nishi MY, Jorge AAL.

Clin Genet. 2019 Sep;96(3):261-265. doi: 10.1111/cge.13587. Epub 2019 Jul 4.

PMID:
31219618
5.

New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism.

Amato LGL, Montenegro LR, Lerario AM, Jorge AAL, Guerra Junior G, Schnoll C, Renck AC, Trarbach EB, Costa EMF, Mendonca BB, Latronico AC, Silveira LFG.

Eur J Endocrinol. 2019 Aug 1;181(2):103-119. doi: 10.1530/EJE-18-0764.

PMID:
31200363
6.

Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR.

Nakaguma M, Correa FA, Santana LS, Benedetti AFF, Perez RV, Huayllas MKP, Miras MB, Funari MFA, Lerario AM, Mendonca BB, Carvalho LRS, Jorge AAL, Arnhold IJP.

Endocr Connect. 2019 May 1;8(5):590-595. doi: 10.1530/EC-19-0085.

7.

CD99 Expression in Glioblastoma Molecular Subtypes and Role in Migration and Invasion.

Cardoso LC, Soares RDS, Laurentino TS, Lerario AM, Marie SKN, Oba-Shinjo SM.

Int J Mol Sci. 2019 Mar 6;20(5). pii: E1137. doi: 10.3390/ijms20051137.

8.

Exome Sequencing Reveals the POLR3H Gene as a Novel Cause of Primary Ovarian Insufficiency.

Franca MM, Han X, Funari MFA, Lerario AM, Nishi MY, Fontenele EGP, Domenice S, Jorge AAL, Garcia-Galiano D, Elias CF, Mendonca BB.

J Clin Endocrinol Metab. 2019 Jul 1;104(7):2827-2841. doi: 10.1210/jc.2018-02485.

PMID:
30830215
9.

Targeted Assessment of G0S2 Methylation Identifies a Rapidly Recurrent, Routinely Fatal Molecular Subtype of Adrenocortical Carcinoma.

Mohan DR, Lerario AM, Else T, Mukherjee B, Almeida MQ, Vinco M, Rege J, Mariani BMP, Zerbini MCN, Mendonca BB, Latronico AC, Marie SKN, Rainey WE, Giordano TJ, Fragoso MCBV, Hammer GD.

Clin Cancer Res. 2019 Jun 1;25(11):3276-3288. doi: 10.1158/1078-0432.CCR-18-2693. Epub 2019 Feb 15.

PMID:
30770352
10.

Genetics of aldosterone-producing adenomas with pathogenic KCNJ5 variants.

Lerario AM, Nanba K, Blinder AR, Suematsu S, Omura M, Nishikawa T, Giordano TJ, Rainey W, Else T.

Endocr Relat Cancer. 2019 Apr 1;26(4):463-470. doi: 10.1530/ERC-18-0364. Epub 2019 Feb 1.

PMID:
30753137
11.

A ZNRF3-dependent Wnt/β-catenin signaling gradient is required for adrenal homeostasis.

Basham KJ, Rodriguez S, Turcu AF, Lerario AM, Logan CY, Rysztak MR, Gomez-Sanchez CE, Breault DT, Koo BK, Clevers H, Nusse R, Val P, Hammer GD.

Genes Dev. 2019 Feb 1;33(3-4):209-220. doi: 10.1101/gad.317412.118. Epub 2019 Jan 28.

12.

Mutations in MAP3K1 that cause 46,XY disorders of sex development disrupt distinct structural domains in the protein.

Chamberlin A, Huether R, Machado AZ, Groden M, Liu HM, Upadhyay K, O V, Gomes NL, Lerario AM, Nishi MY, Costa EMF, Mendonca B, Domenice S, Velasco J, Loke J, Ostrer H.

Hum Mol Genet. 2019 May 15;28(10):1620-1628. doi: 10.1093/hmg/ddz002.

PMID:
30608580
13.

Multigene Sequencing Analysis of Children Born Small for Gestational Age With Isolated Short Stature.

Freire BL, Homma TK, Funari MFA, Lerario AM, Vasques GA, Malaquias AC, Arnhold IJP, Jorge AAL.

J Clin Endocrinol Metab. 2019 Jun 1;104(6):2023-2030. doi: 10.1210/jc.2018-01971.

PMID:
30602027
14.

Therapeutic Targets for Adrenocortical Carcinoma in the Genomics Era.

Mohan DR, Lerario AM, Hammer GD.

J Endocr Soc. 2018 Sep 26;2(11):1259-1274. doi: 10.1210/js.2018-00197. eCollection 2018 Nov 1. Review.

15.

Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing.

Carvalho RA, Urtremari B, Jorge AAL, Santana LS, Quedas EPS, Sekiya T, Longuini VC, Montenegro FLM, Lerario AM, Toledo SPA, Marx SJ, Toledo RA, Lourenço DM Jr.

Eur J Endocrinol. 2018 Dec 1;179(6):391-407. doi: 10.1530/EJE-18-0430.

PMID:
30324798
16.

A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant.

Gomes NL, de Paula LCP, Silva JM, Silva TE, Lerário AM, Nishi MY, Batista RL, Faria Júnior JAD, Moraes D, Costa EMF, Hemesath TP, Guaragna-Filho G, Leite JCL, Carvalho CG, Domenice S, Costa EC, Mendonca BB.

Clin Genet. 2019 Jan;95(1):172-176. doi: 10.1111/cge.13459. Epub 2018 Oct 28.

PMID:
30294972
17.

Drug repurposing using high-throughput screening identifies a promising drug combination to treat adrenocortical carcinoma.

Lerario AM, Hammer GD.

Oncotarget. 2018 Sep 7;9(70):33245-33246. doi: 10.18632/oncotarget.26091. eCollection 2018 Sep 7. No abstract available.

18.

11-Ketotestosterone Is the Dominant Circulating Bioactive Androgen During Normal and Premature Adrenarche.

Rege J, Turcu AF, Kasa-Vubu JZ, Lerario AM, Auchus GC, Auchus RJ, Smith JM, White PC, Rainey WE.

J Clin Endocrinol Metab. 2018 Dec 1;103(12):4589-4598. doi: 10.1210/jc.2018-00736.

PMID:
30137510
19.

Novel SUZ12 mutations in Weaver-like syndrome.

Imagawa E, Albuquerque EVA, Isidor B, Mitsuhashi S, Mizuguchi T, Miyatake S, Takata A, Miyake N, Boguszewski MCS, Boguszewski CL, Lerario AM, Funari MA, Jorge AAL, Matsumoto N.

Clin Genet. 2018 Nov;94(5):461-466. doi: 10.1111/cge.13415. Epub 2018 Aug 6.

PMID:
30019515
20.

Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency.

França MM, Nishi MY, Funari MFA, Lerario AM, Baracat EC, Hayashida SAY, Maciel GAR, Jorge AAL, Mendonca BB.

Eur J Med Genet. 2019 Mar;62(3):186-189. doi: 10.1016/j.ejmg.2018.07.008. Epub 2018 Jul 10.

PMID:
30006057
21.

BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells.

Lessel D, Gehbauer C, Bramswig NC, Schluth-Bolard C, Venkataramanappa S, van Gassen KLI, Hempel M, Haack TB, Baresic A, Genetti CA, Funari MFA, Lessel I, Kuhlmann L, Simon R, Liu P, Denecke J, Kuechler A, de Kruijff I, Shoukier M, Lek M, Mullen T, Lüdecke HJ, Lerario AM, Kobbe R, Krieger T, Demeer B, Lebrun M, Keren B, Nava C, Buratti J, Afenjar A, Shinawi M, Guillen Sacoto MJ, Gauthier J, Hamdan FF, Laberge AM, Campeau PM, Louie RJ, Cathey SS, Prinz I, Jorge AAL, Terhal PA, Lenhard B, Wieczorek D, Strom TM, Agrawal PB, Britsch S, Tolosa E, Kubisch C.

Brain. 2018 Aug 1;141(8):2299-2311. doi: 10.1093/brain/awy173.

22.

Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis.

Gomes NL, Lerário AM, Machado AZ, Moraes DR, Silva TED, Arnhold IJP, Batista RL, Faria Júnior JAD, Costa EF, Nishi MY, Inacio M, Domenice S, Mendonca BB.

Clin Endocrinol (Oxf). 2018 Apr 18. doi: 10.1111/cen.13717. [Epub ahead of print]

PMID:
29668062
23.

Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes.

Correa FA, Jorge AA, Nakaguma M, Canton AP, Costa SS, Funari MF, Lerario AM, Franca MM, Carvalho LR, Krepischi AC, Arnhold IJ, Rosenberg C, Mendonca BB.

Clin Endocrinol (Oxf). 2018 Mar;88(3):425-431. doi: 10.1111/cen.13535. Epub 2018 Jan 10.

PMID:
29265571
24.

Sonic Hedgehog and WNT Signaling Promote Adrenal Gland Regeneration in Male Mice.

Finco I, Lerario AM, Hammer GD.

Endocrinology. 2018 Feb 1;159(2):579-596. doi: 10.1210/en.2017-03061.

25.

IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.

Vasques GA, Funari MFA, Ferreira FM, Aza-Carmona M, Sentchordi-Montané L, Barraza-García J, Lerario AM, Yamamoto GL, Naslavsky MS, Duarte YAO, Bertola DR, Heath KE, Jorge AAL.

J Clin Endocrinol Metab. 2018 Feb 1;103(2):604-614. doi: 10.1210/jc.2017-02026.

PMID:
29155992
26.

Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients.

Freire BL, Homma TK, Funari MFA, Lerario AM, Leal AM, Velloso EDRP, Malaquias AC, Jorge AAL.

Eur J Med Genet. 2018 Mar;61(3):130-133. doi: 10.1016/j.ejmg.2017.11.003. Epub 2017 Nov 10. Review.

PMID:
29133208
27.

A Brazilian family with inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia linked to the VCP pGly97Glu mutation.

Shinjo SK, Oba-Shinjo SM, Lerario AM, Marie SKN.

Clin Rheumatol. 2018 Apr;37(4):1129-1136. doi: 10.1007/s10067-017-3913-1. Epub 2017 Nov 10. Review.

PMID:
29127544
28.

A novel homozygous 1-bp deletion in the NOBOX gene in two Brazilian sisters with primary ovarian failure.

França MM, Funari MFA, Lerario AM, Nishi MY, Pita CC, Fontenele EGP, Mendonca BB.

Endocrine. 2017 Dec;58(3):442-447. doi: 10.1007/s12020-017-1459-2. Epub 2017 Oct 24.

PMID:
29067606
29.

Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing.

França MM, Funari MFA, Nishi MY, Narcizo AM, Domenice S, Costa EMF, Lerario AM, Mendonca BB.

Clin Genet. 2018 Feb;93(2):408-411. doi: 10.1111/cge.13156. Epub 2017 Dec 26.

30.

GLUT1 expression in pediatric adrenocortical tumors: a promising candidate to predict clinical behavior.

Pinheiro C, Granja S, Longatto-Filho A, Faria AM, Fragoso MCBV, Lovisolo SM, Bonatelli M, Costa RFA, Lerário AM, Almeida MQ, Baltazar F, Zerbini MCN.

Oncotarget. 2017 Jul 10;8(38):63835-63845. doi: 10.18632/oncotarget.19135. eCollection 2017 Sep 8.

31.

Adrenocortical carcinoma and succinate dehydrogenase gene mutations: an observational case series.

Else T, Lerario AM, Everett J, Haymon L, Wham D, Mullane M, Wilson TL, Rainville I, Rana H, Worth AJ, Snyder NW, Blair IA, McKay R, Kilbridge K, Hammer G, Barletta J, Vaidya A.

Eur J Endocrinol. 2017 Nov;177(5):439-444. doi: 10.1530/EJE-17-0358. Epub 2017 Aug 17.

PMID:
28819017
32.

Transcriptomic analysis of purified human cortical microglia reveals age-associated changes.

Galatro TF, Holtman IR, Lerario AM, Vainchtein ID, Brouwer N, Sola PR, Veras MM, Pereira TF, Leite REP, Möller T, Wes PD, Sogayar MC, Laman JD, den Dunnen W, Pasqualucci CA, Oba-Shinjo SM, Boddeke EWGM, Marie SKN, Eggen BJL.

Nat Neurosci. 2017 Aug;20(8):1162-1171. doi: 10.1038/nn.4597. Epub 2017 Jul 3.

PMID:
28671693
33.

Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature.

Hisado-Oliva A, Ruzafa-Martin A, Sentchordi L, Funari MFA, Bezanilla-López C, Alonso-Bernáldez M, Barraza-García J, Rodriguez-Zabala M, Lerario AM, Benito-Sanz S, Aza-Carmona M, Campos-Barros A, Jorge AAL, Heath KE.

Genet Med. 2018 Jan;20(1):91-97. doi: 10.1038/gim.2017.66. Epub 2017 Jun 28.

PMID:
28661490
34.

New evidences on the regulation of SF-1 expression by POD1/TCF21 in adrenocortical tumor cells.

França MM, Lerario AM, Fragoso MCBV, Lotfi CFP.

Clinics (Sao Paulo). 2017 Jun;72(6):391-394. doi: 10.6061/clinics/2017(06)10.

35.

A Novel Homozygous Missense FSHR Variant Associated with Hypergonadotropic Hypogonadism in Two Siblings from a Brazilian Family.

França MM, Lerario AM, Funari MFA, Nishi MY, Narcizo AM, de Mello MP, Guerra-Junior G, Maciel-Guerra AT, Mendonça BB.

Sex Dev. 2017;11(3):137-142. doi: 10.1159/000477193. Epub 2017 Jun 8.

PMID:
28591755
36.

PDX1 -MODY and dorsal pancreatic agenesis: New phenotype of a rare disease.

Caetano LA, Santana LS, Costa-Riquetto AD, Lerario AM, Nery M, Nogueira GF, Ortega CD, Rocha MS, Jorge AAL, Teles MG.

Clin Genet. 2018 Feb;93(2):382-386. doi: 10.1111/cge.13044. Epub 2017 Jul 19.

37.

Recurrent Hyperparathyroidism Due to a Novel CDC73 Splice Mutation.

Hattangady NG, Wilson TL, Miller BS, Lerario AM, Giordano TJ, Choksi P, Else T.

J Bone Miner Res. 2017 Aug;32(8):1640-1643. doi: 10.1002/jbmr.3149. Epub 2017 Jun 2.

38.

A new POT1 germline mutation-expanding the spectrum of POT1-associated cancers.

Wilson TL, Hattangady N, Lerario AM, Williams C, Koeppe E, Quinonez S, Osborne J, Cha KB, Else T.

Fam Cancer. 2017 Oct;16(4):561-566. doi: 10.1007/s10689-017-9984-y.

PMID:
28389767
39.

Molecular Mechanisms of Stem/Progenitor Cell Maintenance in the Adrenal Cortex.

Lerario AM, Finco I, LaPensee C, Hammer GD.

Front Endocrinol (Lausanne). 2017 Mar 23;8:52. doi: 10.3389/fendo.2017.00052. eCollection 2017. Review.

40.

Transcriptome Analysis Showed a Differential Signature between Invasive and Non-invasive Corticotrophinomas.

de Araújo LJ, Lerario AM, de Castro M, Martins CS, Bronstein MD, Machado MC, Trarbach EB, Villares Fragoso MC.

Front Endocrinol (Lausanne). 2017 Mar 22;8:55. doi: 10.3389/fendo.2017.00055. eCollection 2017. Erratum in: Front Endocrinol (Lausanne). 2019 Aug 22;10:567.

41.

Female Patient with Alport Syndrome and Concomitant Membranous Nephropathy: Susceptibility or Association of Two Diseases?

Veloso MP, Neves PDMM, Jorge LB, Dias CB, Yu L, Pinheiro RBB, Testagrossa LA, Malheiros DM, Balbo BEP, Lerário AM, Onuchic LF, Woronik V.

Nephron. 2017;136(2):158-162. doi: 10.1159/000458710. Epub 2017 Mar 1.

PMID:
28245485
42.

Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.

Domenice S, Machado AZ, Ferreira FM, Ferraz-de-Souza B, Lerario AM, Lin L, Nishi MY, Gomes NL, da Silva TE, Silva RB, Correa RV, Montenegro LR, Narciso A, Costa EM, Achermann JC, Mendonca BB.

Birth Defects Res C Embryo Today. 2016 Dec;108(4):309-320. doi: 10.1002/bdrc.21145. Review.

43.

Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2.

Vasques GA, Hisado-Oliva A, Funari MF, Lerario AM, Quedas EP, Solberg P, Heath KE, Jorge AA.

J Pediatr Endocrinol Metab. 2017 Jan 1;30(1):111-116. doi: 10.1515/jpem-2016-0280.

PMID:
27941173
44.

Long-term Results after CT-Guided Percutaneous Ethanol Ablation for the Treatment of Hyperfunctioning Adrenal Disorders.

Frenk NE, Sebastianes F, Lerario AM, Fragoso MC, Mendonca BB, Menezes MR.

Clinics (Sao Paulo). 2016 Oct 1;71(10):600-605. doi: 10.6061/clinics/2016(10)08.

45.

Age-dependent Increases in Adrenal Cytochrome b5 and Serum 5-Androstenediol-3-sulfate.

Rege J, Karashima S, Lerario AM, Smith JM, Auchus RJ, Kasa-Vubu JZ, Sasano H, Nakamura Y, White PC, Rainey WE.

J Clin Endocrinol Metab. 2016 Dec;101(12):4585-4593. Epub 2016 Sep 13.

46.

Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma.

Zheng S, Cherniack AD, Dewal N, Moffitt RA, Danilova L, Murray BA, Lerario AM, Else T, Knijnenburg TA, Ciriello G, Kim S, Assie G, Morozova O, Akbani R, Shih J, Hoadley KA, Choueiri TK, Waldmann J, Mete O, Robertson AG, Wu HT, Raphael BJ, Shao L, Meyerson M, Demeure MJ, Beuschlein F, Gill AJ, Sidhu SB, Almeida MQ, Fragoso MCBV, Cope LM, Kebebew E, Habra MA, Whitsett TG, Bussey KJ, Rainey WE, Asa SL, Bertherat J, Fassnacht M, Wheeler DA; Cancer Genome Atlas Research Network, Hammer GD, Giordano TJ, Verhaak RGW.

Cancer Cell. 2016 Aug 8;30(2):363. doi: 10.1016/j.ccell.2016.07.013. Epub 2016 Aug 8. No abstract available.

47.

Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.

de Bruin C, Finlayson C, Funari MF, Vasques GA, Lucheze Freire B, Lerario AM, Andrew M, Hwa V, Dauber A, Jorge AA.

Horm Res Paediatr. 2016;86(5):342-348. doi: 10.1159/000446476. Epub 2016 Jun 2.

48.

Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma.

Zheng S, Cherniack AD, Dewal N, Moffitt RA, Danilova L, Murray BA, Lerario AM, Else T, Knijnenburg TA, Ciriello G, Kim S, Assie G, Morozova O, Akbani R, Shih J, Hoadley KA, Choueiri TK, Waldmann J, Mete O, Robertson AG, Wu HT, Raphael BJ, Shao L, Meyerson M, Demeure MJ, Beuschlein F, Gill AJ, Sidhu SB, Almeida MQ, Fragoso MCBV, Cope LM, Kebebew E, Habra MA, Whitsett TG, Bussey KJ, Rainey WE, Asa SL, Bertherat J, Fassnacht M, Wheeler DA; Cancer Genome Atlas Research Network, Hammer GD, Giordano TJ, Verhaak RGW.

Cancer Cell. 2016 May 9;29(5):723-736. doi: 10.1016/j.ccell.2016.04.002. Erratum in: Cancer Cell. 2016 Aug 8;30(2):363.

49.

Mouse models of adrenocortical tumors.

Basham KJ, Hung HA, Lerario AM, Hammer GD.

Mol Cell Endocrinol. 2016 Feb 5;421:82-97. doi: 10.1016/j.mce.2015.11.031. Epub 2015 Dec 8. Review.

50.

Metabolic reprogramming: a new relevant pathway in adult adrenocortical tumors.

Pinheiro C, Granja S, Longatto-Filho A, Faria AM, Fragoso MC, Lovisolo SM, Lerário AM, Almeida MQ, Baltazar F, Zerbini MC.

Oncotarget. 2015 Dec 29;6(42):44403-21. doi: 10.18632/oncotarget.5623.

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