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Quoted phrase not found in phrase index: "Intellectual disability, autosomal recessive 56"
Page 1
Diagnostic Yield of Intellectual Disability Gene Panels.
Pekeles H, Accogli A, Boudrahem-Addour N, Russell L, Parente F, Srour M. Pekeles H, et al. Pediatr Neurol. 2019 Mar;92:32-36. doi: 10.1016/j.pediatrneurol.2018.11.005. Epub 2018 Nov 22. Pediatr Neurol. 2019. PMID: 30581057
BACKGROUND: Recent technological advances have improved the understanding and identification of the genetic basis of intellectual disability (ID) and global developmental delay (GDD). Next-generation sequencing panels of ID genes are now available for clinical testi …
BACKGROUND: Recent technological advances have improved the understanding and identification of the genetic basis of intellectual …
Patients with Lately Diagnosed Cerebrotendinous Xanthomatosis.
Yunisova G, Tufekcioglu Z, Dogu O, Bilgic B, Kaleagasi H, Akca Kalem S, Lohmann E, Gurvit HI, Emre M, Hanagasi HA. Yunisova G, et al. Neurodegener Dis. 2019;19(5-6):218-224. doi: 10.1159/000506770. Epub 2020 Apr 29. Neurodegener Dis. 2019. PMID: 32349000
OBJECTIVES: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive inborn lipid storage disorder due to various pathogenic mutations in the CYP27A1 gene. ...The most common initial clinical abnormalities in our cohort were unexplained chronic diarrhea (4 …
OBJECTIVES: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive inborn lipid storage disorder due to various pa …
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 cause of the syndrome remains unknown. There were no clues for autosomal recessive or X-linked inheritance, nor for a teratogenic cause. No consistent chromosome anomaly was found. An autosomal dominant mutation, either as submicroscopic chromosome deleti …
The cause of the syndrome remains unknown. There were no clues for autosomal recessive or X-linked inheritance, nor for a tera …
Clinical and genetic characteristics and prenatal diagnosis of patients presented GDD/ID with rare monogenic causes.
Lin L, Zhang Y, Pan H, Wang J, Qi Y, Ma Y. Lin L, et al. Orphanet J Rare Dis. 2020 Nov 11;15(1):317. doi: 10.1186/s13023-020-01599-y. Orphanet J Rare Dis. 2020. PMID: 33176815 Free PMC article.
BACKGROUND: Global developmental delay/intellectual disability (GDD/ID), used to be named as mental retardation (MR), is one of the most common phenotypes in neurogenetic diseases. ...In total, 111 pathogenic variants were found in 62 different genes among the 81 pe …
BACKGROUND: Global developmental delay/intellectual disability (GDD/ID), used to be named as mental retardation (MR), is one o …
Evaluation of patients diagnosed with phenylketonuria and biotinidase deficiency by the newborn screening program: a ten-year retrospective study.
Toktaş İ, Sarıbaş S, Canpolat S, Erdem Ö, Özbek MN. Toktaş İ, et al. Turk J Pediatr. 2022;64(6):985-992. doi: 10.24953/turkjped.2022.467. Turk J Pediatr. 2022. PMID: 36583880 Free article.
BACKGROUND: Phenylketonuria (PKU) and biotinidase deficiency (BD) are autosomal recessive diseases. If they are not identified and treated early, severe intellectual disability and developmental delay occur. ...As a result of further diagnostic testing …
BACKGROUND: Phenylketonuria (PKU) and biotinidase deficiency (BD) are autosomal recessive diseases. If they are not identified …
Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.
Castori M, Valiante M, Pascolini G, Leuzzi V, Pizzuti A, Grammatico P. Castori M, et al. Eur J Med Genet. 2013 Oct;56(10):570-6. doi: 10.1016/j.ejmg.2013.08.004. Epub 2013 Aug 27. Eur J Med Genet. 2013. PMID: 23994350 Review.
Zimmermann-Laband syndrome (ZLS) is a rare MCA/MR condition mainly characterized by gingival hypertrophy, hypo/aplastic nails and distal phalanges, hypertrichosis and intellectual disability. The molecular basis of ZLS is unknown. Most patients are sporadic, althoug …
Zimmermann-Laband syndrome (ZLS) is a rare MCA/MR condition mainly characterized by gingival hypertrophy, hypo/aplastic nails and distal pha …
Frequencies of Six (Five Novel) STR Markers Linked to TUSC3 (MRT7) or NSUN2 (MRT5) Genes Used for Homozygosity Mapping of Recessive Intellectual Disability.
Ghadami S, Mohammadi HM, Malbin J, Masoodifard M, Sarhaddi AB, Tavakkoly-Bazzaz J, Zeinali S. Ghadami S, et al. Clin Lab. 2015;61(8):925-32. doi: 10.7754/clin.lab.2015.150101. Clin Lab. 2015. PMID: 26427135
BACKGROUND: Non-syndromic autosomal recessive intellectual disability (NS-ARID) is an extremely heterogeneous genetic disorder. ...Deviation from Hardy-Weinberg equilibrium and expected heterozygosity were assessed using the DNAView software. RESULTS: …
BACKGROUND: Non-syndromic autosomal recessive intellectual disability (NS-ARID) is an extremely heterogeneous ge …
Leigh syndrome: clinical features and biochemical and DNA abnormalities.
Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR. Rahman S, et al. Ann Neurol. 1996 Mar;39(3):343-51. doi: 10.1002/ana.410390311. Ann Neurol. 1996. PMID: 8602753
Six PDHC-deficient patients had mutations in the X-chromosomal gene encoding the E1alpha subunit of PDHC. Parental consanguinity suggested autosomal recessive inheritance in two complex IV-deficient sibships. We found no strong correlation between the clinical featu …
Six PDHC-deficient patients had mutations in the X-chromosomal gene encoding the E1alpha subunit of PDHC. Parental consanguinity suggested …
Neuropathological findings in eight children with cerebro-oculo-facio-skeletal (COFS) syndrome.
Del Bigio MR, Greenberg CR, Rorke LB, Schnur R, McDonald-McGinn DM, Zackai EH. Del Bigio MR, et al. J Neuropathol Exp Neurol. 1997 Oct;56(10):1147-57. doi: 10.1097/00005072-199710000-00009. J Neuropathol Exp Neurol. 1997. PMID: 9329459
Cerebro-oculo-facial-skeletal (COFS) syndrome is a rare autosomal recessive disorder with microcephaly, severe mental retardation, and death in childhood. ...
Cerebro-oculo-facial-skeletal (COFS) syndrome is a rare autosomal recessive disorder with microcephaly, severe mental retardat …
Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.
Bruford EA, Riise R, Teague PW, Porter K, Thomson KL, Moore AT, Jay M, Warburg M, Schinzel A, Tommerup N, Tornqvist K, Rosenberg T, Patton M, Mansfield DC, Wright AF. Bruford EA, et al. Genomics. 1997 Apr 1;41(1):93-9. doi: 10.1006/geno.1997.4613. Genomics. 1997. PMID: 9126487
Bardet-Biedl syndrome (BBS) is a clinically and genetically heterogeneous autosomal recessive disorder characterized by retinitis pigmentosa, polydactyly, obesity, hypogenitalism, mental retardation, and renal anomalies. To detect linkage to BBS loci, 29 BBS familie …
Bardet-Biedl syndrome (BBS) is a clinically and genetically heterogeneous autosomal recessive disorder characterized by retini …
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