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Quoted phrase not found in phrase index: "Intellectual disability, autosomal dominant 51"
Page 1
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. ...Trisomy 21 (n = 14), ALDH7A1 (n = 10), SCN2A (n = 7), CDKL5 (n = 6), ALG13 (n = 5), KCNQ2 (n = 4), STXBP1 …
Nearly 85% of children with monogenic nuclear disorders had autosomal inheritance (dominant-55.2%, recessive-14.2%), while the …
Muenke syndrome: An international multicenter natural history study.
Kruszka P, Addissie YA, Yarnell CM, Hadley DW, Guillen Sacoto MJ, Platte P, Paelecke Y, Collmann H, Snow N, Schweitzer T, Boyadjiev SA, Aravidis C, Hall SE, Mulliken JB, Roscioli T, Muenke M. Kruszka P, et al. Am J Med Genet A. 2016 Apr;170A(4):918-29. doi: 10.1002/ajmg.a.37528. Epub 2016 Jan 6. Am J Med Genet A. 2016. PMID: 26740388
Muenke syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmental delay, carpal, and calcaneal fusions, and behavioral differences. ...Hearing loss was identified in 70.8%, developmental delay in 66.3%, …
Muenke syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmenta …
A woman with a dual genetic diagnosis of autosomal dominant tubulointerstitial kidney disease and KBG syndrome.
Tanaka Y, Morisada N, Suzuki T, Ohashi Y, Ye MJ, Nozu K, Tsuruta S, Iijima K. Tanaka Y, et al. CEN Case Rep. 2021 May;10(2):184-188. doi: 10.1007/s13730-020-00543-0. Epub 2020 Oct 13. CEN Case Rep. 2021. PMID: 33048330 Free PMC article.
The proband was an 18-year-old woman presenting with intellectual disability, renal insufficiency, and hyperuricemia. Abdominal ultrasonography did not reveal any abnormalities. The patient's father had been diagnosed with chronic kidney disease and hyperuricemia in …
The proband was an 18-year-old woman presenting with intellectual disability, renal insufficiency, and hyperuricemia. Abdomina …
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
Redin C, Gérard B, Lauer J, Herenger Y, Muller J, Quartier A, Masurel-Paulet A, Willems M, Lesca G, El-Chehadeh S, Le Gras S, Vicaire S, Philipps M, Dumas M, Geoffroy V, Feger C, Haumesser N, Alembik Y, Barth M, Bonneau D, Colin E, Dollfus H, Doray B, Delrue MA, Drouin-Garraud V, Flori E, Fradin M, Francannet C, Goldenberg A, Lumbroso S, Mathieu-Dramard M, Martin-Coignard D, Lacombe D, Morin G, Polge A, Sukno S, Thauvin-Robinet C, Thevenon J, Doco-Fenzy M, Genevieve D, Sarda P, Edery P, Isidor B, Jost B, Olivier-Faivre L, Mandel JL, Piton A. Redin C, et al. J Med Genet. 2014 Nov;51(11):724-36. doi: 10.1136/jmedgenet-2014-102554. Epub 2014 Aug 28. J Med Genet. 2014. PMID: 25167861 Free PMC article.
BACKGROUND: Intellectual disability (ID) is characterised by an extreme genetic heterogeneity. ...RESULTS: We identified 26 causative mutations: 16 in X-linked genes (ATRX, CUL4B, DMD, FMR1, HCFC1, IL1RAPL1, IQSEC2, KDM5C, MAOA, MECP2, SLC9A6, SLC16A2, PHF8) and 10 …
BACKGROUND: Intellectual disability (ID) is characterised by an extreme genetic heterogeneity. ...RESULTS: We identified 26 ca …
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.
Lindstrand A, Grigelioniene G, Nilsson D, Pettersson M, Hofmeister W, Anderlid BM, Kant SG, Ruivenkamp CA, Gustavsson P, Valta H, Geiberger S, Topa A, Lagerstedt-Robinson K, Taylan F, Wincent J, Laurell T, Pekkinen M, Nordenskjöld M, Mäkitie O, Nordgren A. Lindstrand A, et al. J Med Genet. 2014 Jan;51(1):45-54. doi: 10.1136/jmedgenet-2013-101937. Epub 2013 Nov 7. J Med Genet. 2014. PMID: 24203977
BACKGROUND: Point mutations in PDE4D have been recently linked to acrodysostosis, an autosomal dominant disorder with skeletal dysplasia, severe brachydactyly, midfacial hypoplasia and intellectual disability. ...CONCLUSIONS: Our findings indicate that …
BACKGROUND: Point mutations in PDE4D have been recently linked to acrodysostosis, an autosomal dominant disorder with skeletal …
Profiles of neuromuscular diseases. Limb-girdle syndromes.
McDonald CM, Johnson ER, Abresch RT, Carter GT, Fowler WM Jr, Kilmer DD. McDonald CM, et al. Am J Phys Med Rehabil. 1995 Sep-Oct;74(5 Suppl):S117-30. doi: 10.1097/00002060-199509001-00006. Am J Phys Med Rehabil. 1995. PMID: 7576419
Sixty-six individuals with Limb-Girdle Syndrome (LGS) were evaluated over a 10-yr period and classified into three types: 19 severe autosomal recessive muscular dystrophy of childhood (ARMDC), alternatively referred to by some as SCARMD, 18 autosomal dominant …
Sixty-six individuals with Limb-Girdle Syndrome (LGS) were evaluated over a 10-yr period and classified into three types: 19 severe autos …
Congenital genitourinary abnormalities in children with Williams-Beuren syndrome.
Sammour ZM, Gomes CM, de Bessa J Jr, Pinheiro MS, Kim CA, Hisano M, Bruschini H, Srougi M. Sammour ZM, et al. J Pediatr Urol. 2014 Oct;10(5):804-9. doi: 10.1016/j.jpurol.2014.01.013. Epub 2014 Feb 13. J Pediatr Urol. 2014. PMID: 24582571
OBJECTIVE: Williams-Beuren syndrome (WBS) is an autosomal dominant disorder caused by a gene deletion on chromosome 7q11.23. ...Of the 38 female subjects, 17 (44.7%) had at least one abnormality, including umbilical hernia in 11 (28.9%), unilateral inguinal hernia i …
OBJECTIVE: Williams-Beuren syndrome (WBS) is an autosomal dominant disorder caused by a gene deletion on chromosome 7q11.23. . …
Early Treatment in Acute Severe Encephalopathy Caused by ATP1A2 Mutation of Familial Hemiplegic Migraine Type 2: Case Report and Literature Review.
Du Y, Li C, Duan FJ, Zhao C, Zhang W. Du Y, et al. Neuropediatrics. 2020 Jun;51(3):215-220. doi: 10.1055/s-0039-3400986. Epub 2019 Nov 25. Neuropediatrics. 2020. PMID: 31766058 Review.
Familial hemiplegic migraine type 2 (FHM2) is an autosomal dominant inheritance disorder caused by ATP1A2 mutation, and the clinical spectrum is heterogeneous even with acute severe encephalopathy. However, up to now, early treatments against acute and severe attack …
Familial hemiplegic migraine type 2 (FHM2) is an autosomal dominant inheritance disorder caused by ATP1A2 mutation, and the cl …
A case report of Williams syndrome with main clinical manifestation of hypercalcemia and gastrointestinal bleeding as the main clinical manifestations, and with an accompanying literature review.
Meng H, Jia YX, Yang HM, Gao X, Li CG, Xin GY, Wang YM. Meng H, et al. Brain Behav. 2023 Aug;13(8):e3131. doi: 10.1002/brb3.3131. Epub 2023 Jun 20. Brain Behav. 2023. PMID: 37337730 Free PMC article.
BACKGROUND: Williams syndrome is an autosomal dominant multisystem disorder caused by a 1.5-1.8 Mb deletion on chromosome 7q11.23. ...
BACKGROUND: Williams syndrome is an autosomal dominant multisystem disorder caused by a 1.5-1.8 Mb deletion on chromosome 7q11 …
De Novo COL7A1 mutation in a patient with trisomy 21: coexistence of dystrophic epidermolysis bullosa and Down syndrome.
Catalán JA, Rodríguez FA, Yubero MJ, Palisson F, Gana MJ, Krämer SM, Repetto GM. Catalán JA, et al. Int J Dermatol. 2012 Sep;51(9):1078-81. doi: 10.1111/j.1365-4632.2011.05428.x. Int J Dermatol. 2012. PMID: 22909362
BACKGROUND: Down syndrome (DS) is the most common autosomal chromosomal disorder. Epidermolysis bullosa (EB) is a rare genodermatosis characterized by skin and mucous membrane fragility, with formation of blisters and erosions after minor trauma. Dystrophic EB (DEB) is inh …
BACKGROUND: Down syndrome (DS) is the most common autosomal chromosomal disorder. Epidermolysis bullosa (EB) is a rare genodermatosis …
11 results