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Page 1
Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders.
Ferreira NGBP, Madeira JLO, Gergics P, Kertsz R, Marques JM, Trigueiro NSS, Benedetti AFF, Azevedo BV, Fernandes BHV, Bissegatto DD, Biscotto IP, Fang Q, Ma Q, Ozel AB, Li J, Camper SA, Jorge AAL, Mendonça BB, Arnhold IJP, Carvalho LR. Ferreira NGBP, et al. Among authors: arnhold ijp. Endocr Connect. 2023 Jul 5;12(8):e220473. doi: 10.1530/EC-22-0473. Endocr Connect. 2023. PMID: 37166408 Free PMC article.
Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature.
Andrade NLM, Funari MFA, Malaquias AC, Collett-Solberg PF, Gomes NLRA, Scalco R, Dantas NCB, Rezende RC, Tiburcio AMFP, Souza MAR, Freire BL, Krepischi ACV, Longui CA, Lerario AM, Arnhold IJP, Jorge AAL, Vasques GA. Andrade NLM, et al. Among authors: arnhold ijp. Endocr Connect. 2022 Nov 14;11(12):e220214. doi: 10.1530/EC-22-0214. Print 2022 Dec 1. Endocr Connect. 2022. PMID: 36373817 Free PMC article.
46,XY Differences of Sexual Development.
Domenice S, Batista RL, Arnhold IJ,P, Sircili MH, Costa EMF, Mendonca BB. Domenice S, et al. 2022 Aug 21. In: Feingold KR, Anawalt B, Blackman MR, Boyce A, Chrousos G, Corpas E, de Herder WW, Dhatariya K, Dungan K, Hofland J, Kalra S, Kaltsas G, Kapoor N, Koch C, Kopp P, Korbonits M, Kovacs CS, Kuohung W, Laferrère B, Levy M, McGee EA, McLachlan R, New M, Purnell J, Sahay R, Shah AS, Singer F, Sperling MA, Stratakis CA, Trence DL, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000–. 2022 Aug 21. In: Feingold KR, Anawalt B, Blackman MR, Boyce A, Chrousos G, Corpas E, de Herder WW, Dhatariya K, Dungan K, Hofland J, Kalra S, Kaltsas G, Kapoor N, Koch C, Kopp P, Korbonits M, Kovacs CS, Kuohung W, Laferrère B, Levy M, McGee EA, McLachlan R, New M, Purnell J, Sahay R, Shah AS, Singer F, Sperling MA, Stratakis CA, Trence DL, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000–. PMID: 25905393 Free Books & Documents. Review.
PROP1-Related Combined Pituitary Hormone Deficiency.
Carvalho LR, Nishi MY, Correa FA, Moreira Marques J, Arnhold IJP, Mendonca BB. Carvalho LR, et al. Among authors: arnhold ijp. 2000 Dec 7 [updated 2022 Feb 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Dec 7 [updated 2022 Feb 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301521 Free Books & Documents. Review.
Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development.
Gomes NL, Batista RL, Nishi MY, Lerário AM, Silva TE, de Moraes Narcizo A, Benedetti AFF, de Assis Funari MF, Faria Junior JA, Moraes DR, Quintão LML, Montenegro LR, Ferrari MTM, Jorge AA, Arnhold IJP, Costa EMF, Domenice S, Mendonca BB. Gomes NL, et al. Among authors: arnhold ijp. J Clin Endocrinol Metab. 2022 Apr 19;107(5):e1797-e1806. doi: 10.1210/clinem/dgac064. J Clin Endocrinol Metab. 2022. PMID: 35134971
Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant.
Labello JH, Benedetti AFF, Azevedo BV, de Lima Jorge AA, Cescato VAS, Rosemberg S, Frasseto FP, Arnhold IJP, de Carvalho LRS. Labello JH, et al. Among authors: arnhold ijp. Arch Endocrinol Metab. 2022 Mar 8;66(1):104-111. doi: 10.20945/2359-3997000000428. Epub 2022 Jan 13. Arch Endocrinol Metab. 2022. PMID: 35029852 Free PMC article.
Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum.
Nakaguma M, Ferreira NGBP, Benedetti AFF, Madi MC, Silva JM, Li JZ, Ma Q, Bilge Ozel A, Fang Q, Narcizo AM, Cardoso LC, Montenegro LR, Funari MFA, Nishi MY, Arnhold IJP, Jorge AAL, Mendonca BB, Camper SA, Carvalho LR. Nakaguma M, et al. Among authors: arnhold ijp. Genes (Basel). 2021 Jul 25;12(8):1128. doi: 10.3390/genes12081128. Genes (Basel). 2021. PMID: 34440302 Free PMC article.
High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency.
Gergics P, Smith C, Bando H, Jorge AAL, Rockstroh-Lippold D, Vishnopolska SA, Castinetti F, Maksutova M, Carvalho LRS, Hoppmann J, Martínez Mayer J, Albarel F, Braslavsky D, Keselman A, Bergadá I, Martí MA, Saveanu A, Barlier A, Abou Jamra R, Guo MH, Dauber A, Nakaguma M, Mendonca BB, Jayakody SN, Ozel AB, Fang Q, Ma Q, Li JZ, Brue T, Pérez Millán MI, Arnhold IJP, Pfaeffle R, Kitzman JO, Camper SA. Gergics P, et al. Among authors: arnhold ijp. Am J Hum Genet. 2021 Aug 5;108(8):1526-1539. doi: 10.1016/j.ajhg.2021.06.013. Epub 2021 Jul 15. Am J Hum Genet. 2021. PMID: 34270938 Free PMC article.
125 results