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Quoted phrase not found in phrase index: "Intellectual disability, autosomal recessive 66"
Page 1
Autism and genetics. A decade of research.
Smalley SL, Asarnow RF, Spence MA. Smalley SL, et al. Arch Gen Psychiatry. 1988 Oct;45(10):953-61. doi: 10.1001/archpsyc.1988.01800340081013. Arch Gen Psychiatry. 1988. PMID: 3048227 Review.
Epidemiologic findings have shown that autism is a rare disorder with a prevalence of two to five per 10,000, a male-female ratio of 3:1, and an association with mental retardation (66% to 75% of autistic subjects have full-scale IQ scores [70]). ...Genetic heteroge …
Epidemiologic findings have shown that autism is a rare disorder with a prevalence of two to five per 10,000, a male-female ratio of 3:1, an …
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India.
Nagarajan B, Gowda VK, Yoganathan S, Sharawat IK, Srivastava K, Vora N, Badheka R, Danda S, Kalane U, Kaur A, Madaan P, Mehta S, Negi S, Panda PK, Rajadhyaksha S, Saini AG, Saini L, Shah S, Srinivasan VM, Suthar R, Thomas M, Vyas S, Sankhyan N, Sahu JK. Nagarajan B, et al. Epilepsia Open. 2023 Dec;8(4):1383-1404. doi: 10.1002/epi4.12811. Epub 2023 Aug 25. Epilepsia Open. 2023. PMID: 37583270 Free PMC article.
Nearly 85% of children with monogenic nuclear disorders had autosomal inheritance (dominant-55.2%, recessive-14.2%), while the rest had X-linked inheritance. ...Pre-existing developmental delay (94.3%), early age at onset of ES (<6 months; 86.2%), central hypoton …
Nearly 85% of children with monogenic nuclear disorders had autosomal inheritance (dominant-55.2%, recessive-14.2%), while the …
Prevalence of sleep problems in Smith-Lemli-Opitz syndrome.
Zarowski M, Vendrame M, Irons M, Kothare SV. Zarowski M, et al. Am J Med Genet A. 2011 Jul;155A(7):1558-62. doi: 10.1002/ajmg.a.34021. Epub 2011 May 27. Am J Med Genet A. 2011. PMID: 21626671
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic disorder, characterized by multiple congenital anomalies, and intellectual disability. ...Symptoms of excessive-daytime-sleepiness were frequently reported [un-refreshed in the morning …
Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic disorder, characterized by multiple congenital anomalies, …
A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3.
Uyguner O, Kayserili H, Li Y, Karaman B, Nürnberg G, Hennies H, Becker C, Nürnberg P, Başaran S, Apak MY, Wollnik B. Uyguner O, et al. Clin Genet. 2007 Mar;71(3):212-9. doi: 10.1111/j.1399-0004.2007.00762.x. Clin Genet. 2007. PMID: 17309643
Autosomal recessive inheritance of non-syndromic mental retardation (ARNSMR) may account for approximately 25% of all patients with non-specific mental retardation (NSMR). Although many X-linked genes have been identified as a cause of NSMR, only three autosomal …
Autosomal recessive inheritance of non-syndromic mental retardation (ARNSMR) may account for approximately 25% of all patients …
Shashi XLMR syndrome: report of a second family.
Castro NH, dos Santos RC, Nelson R, Beçak W, Hane B, Lindsey CJ, Lubs HA, Stevenson RE, Schwartz CE. Castro NH, et al. Am J Med Genet A. 2003 Apr 1;118A(1):49-51. doi: 10.1002/ajmg.a.10888. Am J Med Genet A. 2003. PMID: 12605440
The pedigree is consistent with either X-linked mental retardation or autosomal recessive inheritance. The clinical features consist of coarse face, prominent lower lip, large testes, and obesity. This same constellation of findings was observed in a family w …
The pedigree is consistent with either X-linked mental retardation or autosomal recessive inheritance. The clinical features c …
A novel locus for hereditary spastic paraplegia with thin corpus callosum and epilepsy.
Al-Yahyaee S, Al-Gazali LI, De Jonghe P, Al-Barwany H, Al-Kindi M, De Vriendt E, Chand P, Koul R, Jacob PC, Gururaj A, Sztriha L, Parrado A, Van Broeckhoven C, Bayoumi RA. Al-Yahyaee S, et al. Neurology. 2006 Apr 25;66(8):1230-4. doi: 10.1212/01.wnl.0000208501.52849.dd. Neurology. 2006. PMID: 16636240
At least 22 genetic loci have been linked to HSP, 8 of which are autosomal recessive (ARHSP). HSP complicated with the presence of thin corpus callosum (HSP-TCC) is a common subtype of HSP. ...Neuregulin and KIF13B genes, located within this interval, are interestin …
At least 22 genetic loci have been linked to HSP, 8 of which are autosomal recessive (ARHSP). HSP complicated with the presenc …
Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation.
Cormier-Daire V, Chauvet ML, Lyonnet S, Briard ML, Munnich A, Le Merrer M. Cormier-Daire V, et al. J Med Genet. 2000 Jul;37(7):520-4. doi: 10.1136/jmg.37.7.520. J Med Genet. 2000. PMID: 10882755 Free PMC article.
Flexion deformities of the knees and hips with club feet and absent patellae were consistently observed and scrotal hypoplasia and cryptorchidism were present in all boys (6/6). ...High resolution cytogenetic studies performed on lymphocytes or fibroblasts or both were nor …
Flexion deformities of the knees and hips with club feet and absent patellae were consistently observed and scrotal hypoplasia and cr …