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935 results

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Quoted phrase not found in phrase index: "Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome"
Page 1
Optimizing Chimeric Antigen Receptor T-Cell Therapy for Adults With Acute Lymphoblastic Leukemia.
Frey NV, Shaw PA, Hexner EO, Pequignot E, Gill S, Luger SM, Mangan JK, Loren AW, Perl AE, Maude SL, Grupp SA, Shah NN, Gilmore J, Lacey SF, Melenhorst JJ, Levine BL, June CH, Porter DL. Frey NV, et al. J Clin Oncol. 2020 Feb 10;38(5):415-422. doi: 10.1200/JCO.19.01892. Epub 2019 Dec 9. J Clin Oncol. 2020. PMID: 31815579 Free PMC article. Clinical Trial.
PURPOSE: The anti-CD19 chimeric antigen receptor T-cell therapy tisagenlecleucel (CTL019) has an 81% response rate in children with relapsed or chemotherapy refractory (r/r) B-cell acute lymphoblastic leukemia (ALL). Cytokine release syndrome (CRS) is a life-threatening tr …
PURPOSE: The anti-CD19 chimeric antigen receptor T-cell therapy tisagenlecleucel (CTL019) has an 81% response rate in children with relapsed …
Alstrom syndrome.
Marshall JD, Beck S, Maffei P, Naggert JK. Marshall JD, et al. Eur J Hum Genet. 2007 Dec;15(12):1193-202. doi: 10.1038/sj.ejhg.5201933. Epub 2007 Oct 17. Eur J Hum Genet. 2007. PMID: 17940554
Very high incidences of additional disease phenotypes that may severely affect prognosis and survival include endocrine abnormalities, dilated cardiomyopathy, pulmonary fibrosis and restrictive lung disease, and progressive hepatic and renal failure. ...Most patient …
Very high incidences of additional disease phenotypes that may severely affect prognosis and survival include endocrine abnorm …
Growth charts in DYRK1A syndrome.
Lanvin PL, Goronflot T, Isidor B, Nizon M, Durand B, El Chehadeh S, Geneviève D, Ruault V, Fradin M, Pasquier L, Thévenon J, Delobel B, Burglen L, Afenjar A, Faivre L, Francannet C, Guerrot AM, Goldenberg A, Mercier S, Héron D, Lehalle D, Mignot C, Marey I, Charles P, Moutton S, Bézieau S, Bayat A, Piton A, Willems M, Vincent M. Lanvin PL, et al. Am J Med Genet A. 2024 Jan;194(1):9-16. doi: 10.1002/ajmg.a.63412. Epub 2023 Sep 22. Am J Med Genet A. 2024. PMID: 37740550
Haploinsufficiency of DYRK1A causes a syndrome with global psychomotor delay and intellectual disability. ...This study aims to create specific growth charts for individuals with DYRK1A Syndrome and identify parameters for size prognosis. Growth parame …
Haploinsufficiency of DYRK1A causes a syndrome with global psychomotor delay and intellectual disability. ...This study aims t …
Severity Assessment in CDKL5 Deficiency Disorder.
Demarest S, Pestana-Knight EM, Olson HE, Downs J, Marsh ED, Kaufmann WE, Partridge CA, Leonard H, Gwadry-Sridhar F, Frame KE, Cross JH, Chin RFM, Parikh S, Panzer A, Weisenberg J, Utley K, Jaksha A, Amin S, Khwaja O, Devinsky O, Neul JL, Percy AK, Benke TA. Demarest S, et al. Pediatr Neurol. 2019 Aug;97:38-42. doi: 10.1016/j.pediatrneurol.2019.03.017. Epub 2019 Mar 27. Pediatr Neurol. 2019. PMID: 31147226 Free PMC article. Review.
BACKGROUND: Pathologic mutations in cyclin-dependent kinase-like 5 cause CDKL5 deficiency disorder, a genetic syndrome associated with severe epilepsy and cognitive, motor, visual, and autonomic disturbances. This disorder is a relatively common genetic cause of ear …
BACKGROUND: Pathologic mutations in cyclin-dependent kinase-like 5 cause CDKL5 deficiency disorder, a genetic syndrome associated wit …
Mowat-Wilson syndrome.
Garavelli L, Mainardi PC. Garavelli L, et al. Orphanet J Rare Dis. 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. Orphanet J Rare Dis. 2007. PMID: 17958891 Free PMC article. Review.
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high forehead, frontal bossing, large eyebrows, medially flaring and sparse in the middle part, hypertelorism, deep set but large eyes, large and upli …
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype (high foreh …
Dravet Syndrome: Diagnosis and Long-Term Course.
Connolly MB. Connolly MB. Can J Neurol Sci. 2016 Jun;43 Suppl 3:S3-8. doi: 10.1017/cjn.2016.243. Can J Neurol Sci. 2016. PMID: 27264139 Review.
Dravet syndrome is one of the most severe epilepsy syndromes of early childhood, and it comes with very high morbidity and mortality. ...Development is normal in the first year of life, but most individuals eventually suffer from intellectual impairmen …
Dravet syndrome is one of the most severe epilepsy syndromes of early childhood, and it comes with very high morbidity …
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. ...Microcephaly and immunodeficiency are common to DNA lig …
Nijmegen breakage syndrome (NBS) is a rare autosomal recessive syndrome of chromosomal instability mainly characterized by mic …
Monosomy 18p.
Turleau C. Turleau C. Orphanet J Rare Dis. 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. Orphanet J Rare Dis. 2008. PMID: 18284672 Free PMC article. Review.
Intellectual deficiency is mild to moderate. A small subset of patients, about 10-15 percent of cases, present with severe brain/facial malformations evocative of holoprosencephaly spectrum disorders. ...Deletion 18p can be detected prenatally by amniocentesis or ch …
Intellectual deficiency is mild to moderate. A small subset of patients, about 10-15 percent of cases, present with severe bra …
People with intellectual disability: what do we know about adulthood and life expectancy?
Coppus AM. Coppus AM. Dev Disabil Res Rev. 2013;18(1):6-16. doi: 10.1002/ddrr.1123. Dev Disabil Res Rev. 2013. PMID: 23949824 Review.
With the exception of people with severe and multiple disabilities or Down syndrome, the life expectancy of this group now closely approximates with that of the general population. Middle and old age, which until 30 years ago were not recognized in this population, …
With the exception of people with severe and multiple disabilities or Down syndrome, the life expectancy of this group now clo …
Clinical, biochemical, and genetic aspects of Sjogren-Larsson syndrome.
Cho KH, Shim SH, Kim M. Cho KH, et al. Clin Genet. 2018 Apr;93(4):721-730. doi: 10.1111/cge.13058. Epub 2017 Sep 17. Clin Genet. 2018. PMID: 28543186 Review.
The severity of the clinical manifestations thereof can vary greatly, although most patients are bound to a wheelchair due to contractures. ...In addition, the differential diagnoses of SLS are briefly illustrated, covering cerebral palsy and other genetic or neurocutaneou …
The severity of the clinical manifestations thereof can vary greatly, although most patients are bound to a wheelchair due to contrac …
935 results