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Contributions of common genetic variants to constitutional delay of puberty and idiopathic hypogonadotropic hypogonadism.
J Clin Endocrinol Metab. 2024 Mar 13:dgae166. doi: 10.1210/clinem/dgae166. Online ahead of print.
J Clin Endocrinol Metab. 2024.
PMID: 38477512
Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders.
Rezende RC, Menezes de Andrade NL, Branco Dantas NC, de Polli Cellin L, Victorino Krepischi AC, Lerario AM, de Lima Jorge AA.
Rezende RC, et al. Among authors: de lima jorge aa.
J Pediatr. 2024 Feb;265:113841. doi: 10.1016/j.jpeds.2023.113841. Epub 2023 Nov 22.
J Pediatr. 2024.
PMID: 37995928
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Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant.
Akgun-Dogan O, Díaz-González F, de Lima Jorge AA, Onenli-Mungan N, Menezes Andrade NL, de Polli Cellin L, Ceylaner S, Barcellos Rosa Modkovski M, Alanay Y, Heath KE.
Akgun-Dogan O, et al. Among authors: de lima jorge aa.
Eur J Hum Genet. 2023 Oct 4. doi: 10.1038/s41431-023-01472-z. Online ahead of print.
Eur J Hum Genet. 2023.
PMID: 37789084
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Burden of Rare Copy Number Variants in Microcephaly: A Brazilian Cohort of 185 Microcephalic Patients and Review of the Literature.
Tolezano GC, Bastos GC, da Costa SS, Freire BL, Homma TK, Honjo RS, Yamamoto GL, Passos-Bueno MR, Koiffmann CP, Kim CA, Vianna-Morgante AM, de Lima Jorge AA, Bertola DR, Rosenberg C, Krepischi ACV.
Tolezano GC, et al. Among authors: de lima jorge aa.
J Autism Dev Disord. 2024 Mar;54(3):1181-1212. doi: 10.1007/s10803-022-05853-z. Epub 2022 Dec 11.
J Autism Dev Disord. 2024.
PMID: 36502452
Review.
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High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight.
Freire BL, Homma TK, Lerario AM, Seo GH, Han H, de Assis Funari MF, Gomes NL, Rosemberg C, Krepischi ACV, de Andrade Vasques G, Malaquias AC, de Lima Jorge AA.
Freire BL, et al. Among authors: de lima jorge aa.
Am J Med Genet A. 2022 Sep;188(9):2599-2604. doi: 10.1002/ajmg.a.62892. Epub 2022 Jul 6.
Am J Med Genet A. 2022.
PMID: 35792504
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Genetic investigation of syndromic forms of obesity.
Carvalho LML, D'Angelo CS, Villela D, da Costa SS, de Lima Jorge AA, da Silva IT, de Oliveira Scliar M, Chaves LD, Krepischi ACV, Koiffmann CP, Rosenberg C.
Carvalho LML, et al. Among authors: de lima jorge aa.
Int J Obes (Lond). 2022 Sep;46(9):1582-1586. doi: 10.1038/s41366-022-01149-5. Epub 2022 May 21.
Int J Obes (Lond). 2022.
PMID: 35597848
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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: de lima jorge aa.
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.
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Oncogenic mutations in KEAP1 disturbing inhibitory Nrf2-Keap1 interaction: Activation of antioxidative pathway in papillary thyroid carcinoma.
Danilovic DLS, de Mello ES, Frazzato EST, Wakamatsu A, de Lima Jorge AA, Hoff AO, Marui S.
Danilovic DLS, et al. Among authors: de lima jorge aa.
Head Neck. 2018 Jun;40(6):1271-1278. doi: 10.1002/hed.25105. Epub 2018 Feb 22.
Head Neck. 2018.
PMID: 29469959
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