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Quoted phrase not found in phrase index: "X-linked intellectual disability-macrocephaly-macroorchidism syndrome"
Page 1
ATR-X syndrome: genetics, clinical spectrum, and management.
León NY, Harley VR. León NY, et al. Hum Genet. 2021 Dec;140(12):1625-1634. doi: 10.1007/s00439-021-02361-5. Epub 2021 Sep 15. Hum Genet. 2021. PMID: 34524523
ATR-X, an acronym for alpha thalassemia and mental retardation X-linked, syndrome is a congenital condition predominantly affecting males, characterized by mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomalie …
ATR-X, an acronym for alpha thalassemia and mental retardation X-linked, syndrome is a congenital condition predominant …
Oral Manifestations of Rett Syndrome-A Systematic Review.
Mahdi SS, Jafri HA, Allana R, Amenta F, Khawaja M, Qasim SSB. Mahdi SS, et al. Int J Environ Res Public Health. 2021 Jan 28;18(3):1162. doi: 10.3390/ijerph18031162. Int J Environ Res Public Health. 2021. PMID: 33525609 Free PMC article. Review.
Rett Syndrome is an x linked developmental disorder which becomes apparent in females after 6 to 18 months of age. ...A systematic literature search was conducted on the PubMed, Scopus, Biomed, Web of Science, Embase, Google Scholars, Cochrane and CINAHL usin …
Rett Syndrome is an x linked developmental disorder which becomes apparent in females after 6 to 18 months of age. ...A …
Eye and ocular adnexa manifestations of MED12-related disorders.
Shah A, Bapna M, Al-Saif H, Li R, Couser NL. Shah A, et al. Ophthalmic Genet. 2022 Feb;43(1):126-129. doi: 10.1080/13816810.2021.1989601. Epub 2021 Oct 20. Ophthalmic Genet. 2022. PMID: 34670449
BACKGROUND: MED12-related disorders are a rare group of intellectual disability syndromes with a broad range of phenotypic characteristics. The phenotypic spectrum of MED12-related disorders currently includes X-Linked Ohdo Syndrome, Lujan-Fryns …
BACKGROUND: MED12-related disorders are a rare group of intellectual disability syndromes with a broad range of phenotypic cha …
MECP2-related conditions in males: A systematic literature review and 8 additional cases.
Inuzuka LM, Guerra-Peixe M, Macedo-Souza LI, Pedreira CC, Gurgel-Giannetti J, Monteiro FP, Ramos L, Costa LA, Crippa ACS, Lourenco CM, Pachito DV, Sukys-Claudino L, Gaspar LS, Antoniuk SA, Dutra LPS, Diniz SSL, Pires RB, Garzon E, Kok F. Inuzuka LM, et al. Eur J Paediatr Neurol. 2021 Sep;34:7-13. doi: 10.1016/j.ejpn.2021.05.013. Epub 2021 Jun 21. Eur J Paediatr Neurol. 2021. PMID: 34271245
We were able to collect information on 27 published patients with severe neonatal encephalopathy, 47 individuals with isolated or familial mental retardation X-linked 13 (XLMR13), as well as 24 individuals with isolated or familial Pyramidal signs, parkinsonism, and …
We were able to collect information on 27 published patients with severe neonatal encephalopathy, 47 individuals with isolated or familial m …
CUL4B-associated epilepsy: Report of a novel truncating variant promoting drug-resistant seizures and systematic review of the literature.
Della Vecchia S, Lopergolo D, Trovato R, Pasquariello R, Ferrari AR, Bartolini E. Della Vecchia S, et al. Seizure. 2023 Jan;104:32-37. doi: 10.1016/j.seizure.2022.11.014. Epub 2022 Nov 29. Seizure. 2023. PMID: 36476360 Free article.
BACKGROUND: Cabezas syndrome is a rare X-linked disease caused by mutations in CUL4B and characterized by developmental delay/intellectual disability, somatic dysmorphisms, behavioural disorder, ataxia/tremors. ...PURPOSE: This study aims to expand kno …
BACKGROUND: Cabezas syndrome is a rare X-linked disease caused by mutations in CUL4B and characterized by developmental …