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141 results

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Quoted phrase not found in phrase index: "Intellectual disability, autosomal recessive 3"
Page 1
Prevalence of propionic acidemia in China.
Zhang Y, Peng C, Wang L, Chen S, Wang J, Tian Z, Wang C, Chen X, Zhu S, Zhang GF, Wang Y. Zhang Y, et al. Orphanet J Rare Dis. 2023 Sep 9;18(1):281. doi: 10.1186/s13023-023-02898-w. Orphanet J Rare Dis. 2023. PMID: 37689673 Free PMC article. Review.
Propionic acidemia (PA) is a rare autosomal recessive congenital disease caused by mutations in the PCCA or PCCB genes. ...Late-onset cases of PA have a more heterogeneous clinical spectra, including growth retardation, intellectual disability, seizure …
Propionic acidemia (PA) is a rare autosomal recessive congenital disease caused by mutations in the PCCA or PCCB genes. ...Lat …
Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability.
Taşkıran EZ, Karaosmanoğlu B, Koşukcu C, Ürel-Demir G, Akgün-Doğan Ö, Şimşek-Kiper PÖ, Alikaşifoğlu M, Boduroğlu K, Utine GE. Taşkıran EZ, et al. J Intellect Disabil Res. 2021 Jun;65(6):577-588. doi: 10.1111/jir.12835. Epub 2021 Mar 19. J Intellect Disabil Res. 2021. PMID: 33739554
BACKGROUND: Aetiological diagnosis in non-syndromic intellectual disability (NSID) still poses a diagnostic challenge to clinicians. ...Twenty-two (75.8%) were consanguineously married; however, only 12 (41.4%) of the detected genes caused autosomal recess …
BACKGROUND: Aetiological diagnosis in non-syndromic intellectual disability (NSID) still poses a diagnostic challenge to clini …
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 …
Bi-allelic TTI1 variants cause an autosomal-recessive neurodevelopmental disorder with microcephaly.
Serey-Gaut M, Cortes M, Makrythanasis P, Suri M, Taylor AMR, Sullivan JA, Asleh AN, Mitra J, Dar MA, McNamara A, Shashi V, Dugan S, Song X, Rosenfeld JA, Cabrol C, Iwaszkiewicz J, Zoete V, Pehlivan D, Akdemir ZC, Roeder ER, Littlejohn RO, Dibra HK, Byrd PJ, Stewart GS, Geckinli BB, Posey J, Westman R, Jungbluth C, Eason J, Sachdev R, Evans CA, Lemire G, VanNoy GE, O'Donnell-Luria A, Mau-Them FT, Juven A, Piard J, Nixon CY, Zhu Y, Ha T, Buckley MF, Thauvin C, Essien Umanah GK, Van Maldergem L, Lupski JR, Roscioli T, Dawson VL, Dawson TM, Antonarakis SE. Serey-Gaut M, et al. Am J Hum Genet. 2023 Mar 2;110(3):499-515. doi: 10.1016/j.ajhg.2023.01.006. Epub 2023 Jan 31. Am J Hum Genet. 2023. PMID: 36724785 Free PMC article.
Telomere maintenance 2 (TELO2), Tel2 interacting protein 2 (TTI2), and Tel2 interacting protein 1 (TTI1) are the three components of the conserved Triple T (TTT) complex that modulates activity of phosphatidylinositol 3-kinase-related protein kinases (PIKKs), including mTO …
Telomere maintenance 2 (TELO2), Tel2 interacting protein 2 (TTI2), and Tel2 interacting protein 1 (TTI1) are the three components of the con …
Psychiatric manifestations in cerebrotendinous xanthomatosis.
Fraidakis MJ. Fraidakis MJ. Transl Psychiatry. 2013 Sep 3;3(9):e302. doi: 10.1038/tp.2013.76. Transl Psychiatry. 2013. PMID: 24002088 Free PMC article. Review.
Cerebrotendinous xanthomatosis (CTX) is a rare and severe, but treatable, inborn disorder of bile acid biosynthesis and sterol storage with autosomal recessive inheritance and variable clinical presentation. CTX treatment consists of chenodeoxycholic acid and must b …
Cerebrotendinous xanthomatosis (CTX) is a rare and severe, but treatable, inborn disorder of bile acid biosynthesis and sterol storage with …
A homozygous mutation in CMAS causes autosomal recessive intellectual disability in a Kazakh family.
Qu R, Sang Q, Wang X, Xu Y, Chen B, Mu J, Zhang Z, Jin L, He L, Wang L. Qu R, et al. Ann Hum Genet. 2020 Jan;84(1):46-53. doi: 10.1111/ahg.12349. Epub 2019 Sep 8. Ann Hum Genet. 2020. PMID: 31495922
Intellectual disability (ID) describes a wide range of serious human diseases caused by defects in central nervous system development and function. ...We identified the NM_018686.3:c.563G > A (p.Arg188His) substitution in CMAS as being responsible for the …
Intellectual disability (ID) describes a wide range of serious human diseases caused by defects in central nervous system deve …
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 …
Clinical implications of de Barsy syndrome.
Warner LL, Olsen DA, Smith HM. Warner LL, et al. Paediatr Anaesth. 2018 Jan;28(1):59-62. doi: 10.1111/pan.13283. Epub 2017 Nov 17. Paediatr Anaesth. 2018. PMID: 29148179
BACKGROUND: De Barsy syndrome is a rare, autosomal recessive syndrome characterized by cutis laxa, progeroid appearance, ophthalmic opacification, skeletal malformations, growth delays, and intellectual disability. ...Observations of the perioperative …
BACKGROUND: De Barsy syndrome is a rare, autosomal recessive syndrome characterized by cutis laxa, progeroid appearance, ophth …
Proteome changes in autosomal recessive primary microcephaly.
Zaqout S, Mannaa A, Klein O, Krajewski A, Klose J, Luise-Becker L, Elsabagh A, Ferih K, Kraemer N, Ravindran E, Makridis K, Kaindl AM. Zaqout S, et al. Ann Hum Genet. 2023 Mar;87(1-2):50-62. doi: 10.1111/ahg.12489. Epub 2022 Nov 29. Ann Hum Genet. 2023. PMID: 36448252
BACKGROUND/AIM: Autosomal recessive primary microcephaly (MCPH) is a rare and genetically heterogeneous group of disorders characterized by intellectual disability and microcephaly at birth, classically without further organ involvement. ...
BACKGROUND/AIM: Autosomal recessive primary microcephaly (MCPH) is a rare and genetically heterogeneous group of disorders cha …
Genotype-phenotype correlation in Phelan-McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes.
Ricciardello A, Tomaiuolo P, Persico AM. Ricciardello A, et al. Am J Med Genet A. 2021 Jul;185(7):2211-2233. doi: 10.1002/ajmg.a.62222. Epub 2021 May 5. Am J Med Genet A. 2021. PMID: 33949759 Free PMC article. Review.
Phelan-McDermid syndrome (PMS, OMIM #606232), also known as chromosome 22q13 deletion syndrome, is a rare genetic disorder characterized by intellectual disability, hypotonia, delayed or absent speech, motor impairment, autism spectrum disorder, behavioral anomalies …
Phelan-McDermid syndrome (PMS, OMIM #606232), also known as chromosome 22q13 deletion syndrome, is a rare genetic disorder characterized by …
141 results