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Page 1
Advances in identification of genes involved in autosomal recessive intellectual disability: a brief review.
Mir YR, Kuchay RAH. Mir YR, et al. J Med Genet. 2019 Sep;56(9):567-573. doi: 10.1136/jmedgenet-2018-105821. Epub 2019 Mar 6. J Med Genet. 2019. PMID: 30842223 Review.
Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1%-3% of the general population. ...The total number of autosomal recessive ID (ARID) genes is estimated to be very high, and most are still unknown. ...
Intellectual disability (ID) is a clinically and genetically heterogeneous disorder, affecting 1%-3% of the general population
Smith-Lemli-Opitz syndrome.
DeBarber AE, Eroglu Y, Merkens LS, Pappu AS, Steiner RD. DeBarber AE, et al. Expert Rev Mol Med. 2011 Jul 22;13:e24. doi: 10.1017/S146239941100189X. Expert Rev Mol Med. 2011. PMID: 21777499 Free PMC article. Review.
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive, multiple congenital malformation and intellectual disability syndrome, with clinical characteristics that encompass a wide spectrum and great variability. ...
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive, multiple congenital malformation and intellectual disab
Phenylalanine hydroxylase deficiency.
Mitchell JJ, Trakadis YJ, Scriver CR. Mitchell JJ, et al. Genet Med. 2011 Aug;13(8):697-707. doi: 10.1097/GIM.0b013e3182141b48. Genet Med. 2011. PMID: 21555948 Free article. Review.
Phenylalanine hydroxylase deficiency is an autosomal recessive disorder that results in intolerance to the dietary intake of the essential amino acid phenylalanine. ...Classic phenylketonuria is caused by a complete or near-complete deficiency of phenylalanine hydro …
Phenylalanine hydroxylase deficiency is an autosomal recessive disorder that results in intolerance to the dietary intake of t …
Mortality in patients with alpha-mannosidosis: a review of patients' data and the literature.
Hennermann JB, Raebel EM, Donà F, Jacquemont ML, Cefalo G, Ballabeni A, Malm D. Hennermann JB, et al. Orphanet J Rare Dis. 2022 Jul 23;17(1):287. doi: 10.1186/s13023-022-02422-6. Orphanet J Rare Dis. 2022. PMID: 35871018 Free PMC article. Review.
BACKGROUND: Alpha-mannosidosis is a rare autosomal recessive lysosomal storage disorder (LSD) caused by reduced activity of alpha-mannosidase. ...RESULTS: Median age at death for patients reported by clinicians/POs was 45 years (mean 40.3 13.2, range 18-56, n …
BACKGROUND: Alpha-mannosidosis is a rare autosomal recessive lysosomal storage disorder (LSD) caused by reduced activity of al …
Nijmegen breakage syndrome (NBS).
Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M. Chrzanowska KH, et al. Orphanet J Rare Dis. 2012 Feb 28;7:13. doi: 10.1186/1750-1172-7-13. Orphanet J Rare Dis. 2012. PMID: 22373003 Free PMC article. Review.
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by microcephaly at birth, combined immunodeficiency and predisposition to malignancies. ...The principal clinical manifestations of the syndrome a …
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by mic …
Newly characterized forms of neurodegeneration with brain iron accumulation.
Doorn JM, Kruer MC. Doorn JM, et al. Curr Neurol Neurosci Rep. 2013 Dec;13(12):413. doi: 10.1007/s11910-013-0413-9. Curr Neurol Neurosci Rep. 2013. PMID: 24142851 Free PMC article. Review.
Recent discoveries have shown that mutations in C19orf12 or WDR45 can lead to NBIA. C19orf12 mutations are inherited in an autosomal recessive manner, and lead to a syndrome similar to that caused by mutations in PANK2 or PLA2G6. In contrast, WDR45 mutations lead to …
Recent discoveries have shown that mutations in C19orf12 or WDR45 can lead to NBIA. C19orf12 mutations are inherited in an autosomal
Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.
Nowaczyk MJ, Irons MB. Nowaczyk MJ, et al. Am J Med Genet C Semin Med Genet. 2012 Nov 15;160C(4):250-62. doi: 10.1002/ajmg.c.31343. Epub 2012 Oct 11. Am J Med Genet C Semin Med Genet. 2012. PMID: 23059950 Review.
Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple anomaly/intellectual disability syndrome caused by a deficiency of cholesterol synthesis resulting from a deficiency of 7-dehydrocholesterol (7DHC) reductase encoded by DHCR7. SLOS is inherited in an auto
Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple anomaly/intellectual disability syndrome caused by a deficiency of …
Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene and Review of Literature.
Elaraby NM, Ahmed HA, Ashaat NA, Tawfik S, Ahmed MKH, Hassib NF, Ashaat EA. Elaraby NM, et al. J Mol Neurosci. 2022 Nov;72(11):2242-2251. doi: 10.1007/s12031-022-02074-y. Epub 2022 Oct 17. J Mol Neurosci. 2022. PMID: 36251212 Free PMC article. Review.
Alopecia intellectual disability syndromes 4 (APMR4) is a very rare autosomal recessive condition caused by a mutation in the LSS gene present on chromosome 21. This syndrome has a clinical heterogeneity mainly exhibited with variable degrees of int
Alopecia intellectual disability syndromes 4 (APMR4) is a very rare autosomal recessive condition caused by a mu …
MCPH1: A Novel Case Report and a Review of the Literature.
Caraffi SG, Pollazzon M, Farooq M, Fatima A, Larsen LA, Zuntini R, Napoli M, Garavelli L. Caraffi SG, et al. Genes (Basel). 2022 Apr 2;13(4):634. doi: 10.3390/genes13040634. Genes (Basel). 2022. PMID: 35456440 Free PMC article. Review.
Microcephaly primary hereditary (MCPH) is a congenital disease characterized by nonsyndromic reduction in brain size due to impaired neurogenesis, often associated with a variable degree of intellectual disability (ID). The genetic etiology of MCPH is heterogeneous …
Microcephaly primary hereditary (MCPH) is a congenital disease characterized by nonsyndromic reduction in brain size due to impaired neuroge …
Etiology and recurrence risk in Rubinstein-Taybi syndrome.
Hennekam RC, Stevens CA, Van de Kamp JJ. Hennekam RC, et al. Am J Med Genet Suppl. 1990;6:56-64. doi: 10.1002/ajmg.1320370610. Am J Med Genet Suppl. 1990. PMID: 2118780 Review.
The 502 probands had a total of 708 sibs, including one probable recurrence. In 12 of 13 proven or possible monozygotic twins both children were affected. ...The cause of the syndrome remains unknown. There were no clues for autosomal recessive or X-linked in …
The 502 probands had a total of 708 sibs, including one probable recurrence. In 12 of 13 proven or possible monozygotic twins both ch …
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