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49 results

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Page 1
Primary adrenal insufficiency: New genetic causes and their long-term consequences.
Buonocore F, Achermann JC. Buonocore F, et al. Clin Endocrinol (Oxf). 2020 Jan;92(1):11-20. doi: 10.1111/cen.14109. Epub 2019 Oct 30. Clin Endocrinol (Oxf). 2020. PMID: 31610036 Free PMC article. Review.
We discuss (a) the role of the nuclear receptors DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human adrenal and reproductive dysfunction; (b) multisystem growth restriction syndromes due to gain-of-function in the growth repressors CDKN1C (IMAGE syndrome …
We discuss (a) the role of the nuclear receptors DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human adrenal and reproductive dy …
Analysis of CDKN1C in fetal growth restriction and pregnancy loss.
Suntharalingham JP, Ishida M, Buonocore F, Del Valle I, Solanky N, Demetriou C, Regan L, Moore GE, Achermann JC. Suntharalingham JP, et al. F1000Res. 2019 Jan 23;8:90. doi: 10.12688/f1000research.15016.2. eCollection 2019. F1000Res. 2019. PMID: 31497289 Free PMC article. Review.
Methods: Analysis of published literature was undertaken to review the localisation of variants in CDKN1C associated with IMAGe syndrome or fetal growth restriction. CDKN1C expression in different tissues was analysed in available RNA-Seq data (Human Protein Atlas). …
Methods: Analysis of published literature was undertaken to review the localisation of variants in CDKN1C associated with IMAGe sy …
Mirror Syndrome Combined with Postpartum Hemolytic Uremic Syndrome.
Luo N, Li HJ, Lin Z, Li Y, Gao HM. Luo N, et al. Clin Lab. 2024 Jul 1;70(7). doi: 10.7754/Clin.Lab.2024.240229. Clin Lab. 2024. PMID: 38965965
RESULTS: The patient presented clinically with "triple edema" and was diagnosed with mirror image syndrome. After cesarean section, the patient developed cardiac insufficiency, renal insufficiency, hemolysis, and other symptoms and was diagnosed as PHUS. ...
RESULTS: The patient presented clinically with "triple edema" and was diagnosed with mirror image syndrome. After cesarean sec …
A Case report: Co-occurrence of IMAGe syndrome and Rhabdomyosarcoma.
Bolomiti M, Båtnes-Pedersen E, Telman G, Januszkiewicz-Lewandowska D. Bolomiti M, et al. Cancer Genet. 2021 Aug;256-257:100-105. doi: 10.1016/j.cancergen.2021.05.006. Epub 2021 May 26. Cancer Genet. 2021. PMID: 34098225 Free article.
IMAGe syndrome is a rare congenital disorder, presenting with intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies (in males). ...Through this case we aim to present the possibility of oncogenesis in patients wit …
IMAGe syndrome is a rare congenital disorder, presenting with intrauterine growth restriction, metaphyseal dysplasia, adrenal …
Phase separation of competing memories along the human hippocampal theta rhythm.
Kerrén C, van Bree S, Griffiths BJ, Wimber M. Kerrén C, et al. Elife. 2022 Nov 17;11:e80633. doi: 10.7554/eLife.80633. Elife. 2022. PMID: 36394367 Free PMC article.
We used a proactive interference task, where a reminder word could be associated with either a single image (non-competitive condition) or two competing images, and participants were asked to always recall the most recently learned word-image association. Time-resol …
We used a proactive interference task, where a reminder word could be associated with either a single image (non-competitive condition) or t …
DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency.
Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaitė Ž, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J; SGP Consortium; Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP. Logan CV, et al. Am J Hum Genet. 2018 Dec 6;103(6):1038-1044. doi: 10.1016/j.ajhg.2018.10.024. Epub 2018 Nov 29. Am J Hum Genet. 2018. PMID: 30503519 Free PMC article.
Phenotypically, these individuals had clinical features closely resembling IMAGe syndrome (intrauterine growth restriction [IUGR], metaphyseal dysplasia, adrenal hypoplasia congenita, and genitourinary anomalies in males), a disorder previously associated with gain- …
Phenotypically, these individuals had clinical features closely resembling IMAGe syndrome (intrauterine growth restriction [IU …
IMAGe syndrome: Case report with a previously unreported feature and review of published literature.
Balasubramanian M, Sprigg A, Johnson DS. Balasubramanian M, et al. Am J Med Genet A. 2010 Dec;152A(12):3138-42. doi: 10.1002/ajmg.a.33716. Am J Med Genet A. 2010. PMID: 21108398 Review.
IMAGe syndrome is a rare condition, first reported by Vilain et al., in 1999, characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. ...Other reported features in this condition include, hyperca …
IMAGe syndrome is a rare condition, first reported by Vilain et al., in 1999, characterized by intrauterine growth restriction …
IMAGe association: report of two cases in siblings with adrenal hypoplasia and review of the literature.
Phillips K, Arroyo MR, Duckworth LV. Phillips K, et al. Pediatr Dev Pathol. 2014 May-Jun;17(3):204-8. doi: 10.2350/14-01-1421-OA.1. Epub 2014 Mar 11. Pediatr Dev Pathol. 2014. PMID: 24617583 Review.
We report the postmortem findings of two siblings with gross and microscopic features consistent with IMAGe association (Intrauterine growth retardation, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital anomalies) with an emphasis on the histopatholo …
We report the postmortem findings of two siblings with gross and microscopic features consistent with IMAGe association (Intra …
49 results