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Quoted phrase not found in phrase index: "Intellectual developmental disorder, autosomal recessive 72"
Page 1
Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants.
Chuang CK, Tu YR, Lee CL, Lo YT, Chang YH, Liu MY, Liu HY, Chen HJ, Kao SM, Wang LY, Ho HJ, Lin HY, Lin SP. Chuang CK, et al. Int J Mol Sci. 2022 Sep 1;23(17):9979. doi: 10.3390/ijms23179979. Int J Mol Sci. 2022. PMID: 36077388 Free PMC article.
Mucopolysaccharidosis (MPS) is a lysosomal storage disease caused by genetic defects that result in deficiency of one specific enzyme activity, consequently impairing the stepwise degradation of glycosaminoglycans (GAGs). Except for MPS II, the other types of MPS have autosoma …
Mucopolysaccharidosis (MPS) is a lysosomal storage disease caused by genetic defects that result in deficiency of one specific enzyme activi …
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families.
Harripaul R, Vasli N, Mikhailov A, Rafiq MA, Mittal K, Windpassinger C, Sheikh TI, Noor A, Mahmood H, Downey S, Johnson M, Vleuten K, Bell L, Ilyas M, Khan FS, Khan V, Moradi M, Ayaz M, Naeem F, Heidari A, Ahmed I, Ghadami S, Agha Z, Zeinali S, Qamar R, Mozhdehipanah H, John P, Mir A, Ansar M, French L, Ayub M, Vincent JB. Harripaul R, et al. Mol Psychiatry. 2018 Apr;23(4):973-984. doi: 10.1038/mp.2017.60. Epub 2017 Apr 11. Mol Psychiatry. 2018. PMID: 28397838
Approximately 1% of the global population is affected by intellectual disability (ID), and the majority receive no molecular diagnosis. Previous studies have indicated high levels of genetic heterogeneity, with estimates of more than 2500 autosomal ID genes, …
Approximately 1% of the global population is affected by intellectual disability (ID), and the majority receive no molecular d …
Genetics of autosomal recessive non-syndromic mental retardation: recent advances.
Basel-Vanagaite L. Basel-Vanagaite L. Clin Genet. 2007 Sep;72(3):167-74. doi: 10.1111/j.1399-0004.2007.00881.x. Clin Genet. 2007. PMID: 17718851 Review.
The identification of the genes mutated in autosomal recessive non-syndromic mental retardation (ARNSMR) has been very active recently. ...
The identification of the genes mutated in autosomal recessive non-syndromic mental retardation (ARNSMR) has been very active …
Childhood-onset autosomal recessive ataxias: a cross-sectional study from Turkey.
Mutlu-Albayrak H, Kırat E, Gürbüz G. Mutlu-Albayrak H, et al. Neurogenetics. 2020 Jan;21(1):59-66. doi: 10.1007/s10048-019-00597-y. Epub 2019 Nov 19. Neurogenetics. 2020. PMID: 31741144
Autosomal recessive ataxias (ARAs) are a heterogeneous group of inherited neurodegenerative disorders that affect the cerebellum, the spinocerebellar tract, and/or the sensory tracts of the spinal cord. ...The c.3576G>A (p.K1192=) was the most common homozygous p …
Autosomal recessive ataxias (ARAs) are a heterogeneous group of inherited neurodegenerative disorders that affect the cerebell …
Disorders of creatine transport and metabolism.
Longo N, Ardon O, Vanzo R, Schwartz E, Pasquali M. Longo N, et al. Am J Med Genet C Semin Med Genet. 2011 Feb 15;157C(1):72-8. doi: 10.1002/ajmg.c.30292. Epub 2011 Feb 9. Am J Med Genet C Semin Med Genet. 2011. PMID: 21308988
There are two known disorders of creatine synthesis (both transmitted as autosomal recessive traits: arginine: glycine amidinotransferase (AGAT) deficiency; OMIM 602360; and guanidinoacetate methyltransferase (GAMT) deficiency (OMIM 601240)) and one disorder …
There are two known disorders of creatine synthesis (both transmitted as autosomal recessive traits: arginine: glycine amidino …
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 …
Epidemiologic and clinical characteristics of 458 Tunisian patients with intellectual deficiency and a reconsidered diagnostic strategy.
Trabelsi M, Chelly I, Maazoul F, Chaabouni M, Ouertani I, Kraoua L, Khemakhem L, Mrad R, Chaabouni H. Trabelsi M, et al. Eur J Med Genet. 2013 Jan;56(1):13-9. doi: 10.1016/j.ejmg.2012.10.012. Epub 2012 Nov 8. Eur J Med Genet. 2013. PMID: 23142735
Intellectual Deficiency (ID) is a common neuropsychiatric disorder whose etiopathogenesis still insufficiently understood. ...Data analyses, by the SPSS program, reveal a male predominance, a high level of consanguinity, an advanced mean age of patients, a rare freq …
Intellectual Deficiency (ID) is a common neuropsychiatric disorder whose etiopathogenesis still insufficiently understood. ... …
Acute lymphoblastic leukemia in a child with the CHIME neuroectodermal dysplasia syndrome.
Schnur RE, Greenbaum BH, Heymann WR, Christensen K, Buck AS, Reid CS. Schnur RE, et al. Am J Med Genet. 1997 Oct 3;72(1):24-9. Am J Med Genet. 1997. PMID: 9295069 Review.
The "CHIME" syndrome (MIM#280000) is a rare neuroectodermal disorder comprised of Colobomas of the eye, Heart defects, Ichthyosiform dermatosis, Mental retardation, and Ear defects. ...Histologic examination of the skin demonstrated findings of an epidermal nevus with deep …
The "CHIME" syndrome (MIM#280000) is a rare neuroectodermal disorder comprised of Colobomas of the eye, Heart defects, Ichthyosiform …
Contiguous deletion of the X-linked adrenoleukodystrophy gene (ABCD1) and DXS1357E: a novel neonatal phenotype similar to peroxisomal biogenesis disorders.
Corzo D, Gibson W, Johnson K, Mitchell G, LePage G, Cox GF, Casey R, Zeiss C, Tyson H, Cutting GR, Raymond GV, Smith KD, Watkins PA, Moser AB, Moser HW, Steinberg SJ. Corzo D, et al. Am J Hum Genet. 2002 Jun;70(6):1520-31. doi: 10.1086/340849. Epub 2002 Apr 29. Am J Hum Genet. 2002. PMID: 11992258 Free PMC article.
Until now, it has been possible to distinguish unequivocally between individuals with these autosomal recessively inherited syndromes and individuals with ABCD1 mutations, on the basis of the clinical presentation and measurement of other biochemical markers. ...The …
Until now, it has been possible to distinguish unequivocally between individuals with these autosomal recessively inherited sy …
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion.
Cardoso C, Boys A, Parrini E, Mignon-Ravix C, McMahon JM, Khantane S, Bertini E, Pallesi E, Missirian C, Zuffardi O, Novara F, Villard L, Giglio S, Chabrol B, Slater HR, Moncla A, Scheffer IE, Guerrini R. Cardoso C, et al. Neurology. 2009 Mar 3;72(9):784-92. doi: 10.1212/01.wnl.0000336339.08878.2d. Epub 2008 Dec 10. Neurology. 2009. PMID: 19073947
BACKGROUND: Periventricular heterotopia (PH) is an etiologically heterogeneous disorder characterized by nodules of neurons ectopically placed along the lateral ventricles. ...Mutations in FLNA (Xq28) and ARFGEF2 (20q13) are responsible for X-linked bilateral PH and a rare …
BACKGROUND: Periventricular heterotopia (PH) is an etiologically heterogeneous disorder characterized by nodules of neurons ectopical …
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