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Quoted phrase not found in phrase index: "Spinocerebellar ataxia, autosomal recessive 31"
Page 1
The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel.
Zlotogora J. Zlotogora J. Hum Genet. 2010 Nov;128(5):473-9. doi: 10.1007/s00439-010-0890-8. Epub 2010 Sep 18. Hum Genet. 2010. PMID: 20852892 Review.
In the non-Jewish population, up to 1 July 2010, the database included molecular data on six diseases relatively frequent in the whole population: thalassemia, familial Mediterranean fever (FMF), cystic fibrosis, deafness, phenylketonuria and congenital adrenal hyperplasia, as we …
In the non-Jewish population, up to 1 July 2010, the database included molecular data on six diseases relatively frequent in the whole popul …
A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher‑Neuhäuser syndrome.
Zheng R, Zhao Y, Wu J, Wang Y, Liu JL, Zhou ZL, Zhou XT, Chen DN, Liao WH, Li JD. Zheng R, et al. Mol Med Rep. 2018 Jul;18(1):261-267. doi: 10.3892/mmr.2018.8955. Epub 2018 May 3. Mol Med Rep. 2018. PMID: 29749493 Free PMC article. Clinical Trial.
The combination of cerebellar degeneration, hypogonadotropic hypogonadism and chorioretinal dystrophy defines Boucher-Neuhauser syndrome (BNS), which has been associated with autosomal-recessive mutations in the patatin-like phospholipase domain containing 6 (PNPLA6 …
The combination of cerebellar degeneration, hypogonadotropic hypogonadism and chorioretinal dystrophy defines Boucher-Neuhauser syndrome (BN …
Localization of an ataxia-telangiectasia gene to chromosome 11q22-23.
Gatti RA, Berkel I, Boder E, Braedt G, Charmley P, Concannon P, Ersoy F, Foroud T, Jaspers NG, Lange K, et al. Gatti RA, et al. Nature. 1988 Dec 8;336(6199):577-80. doi: 10.1038/336577a0. Nature. 1988. PMID: 3200306
Ataxia-telangiectasia (AT) is a human autosomal recessive disorder of childhood characterized by: (1) progressive cerebellar ataxia with degeneration of Purkinje cells; (2) hypersensitivity of fibroblasts and lymphocytes to ionizing radiation; (3) a 61 …
Ataxia-telangiectasia (AT) is a human autosomal recessive disorder of childhood characterized by: (1) progressive cereb …
Healing of granulomatous skin changes in ataxia-telangiectasia after treatment with intravenous immunoglobulin and topical mometasone 0.1% ointment.
Privette ED, Ram G, Treat JR, Yan AC, Heimall JR. Privette ED, et al. Pediatr Dermatol. 2014 Nov-Dec;31(6):703-7. doi: 10.1111/pde.12411. Epub 2014 Sep 18. Pediatr Dermatol. 2014. PMID: 25236668
Ataxia-telangiectasia (AT) is a rare autosomal recessive disorder characterized by faulty DNA damage repair. ...A 3-year-old girl presented to the emergency department with ataxia, poor growth, and multiple ulcerated plaques on both upper extremities t …
Ataxia-telangiectasia (AT) is a rare autosomal recessive disorder characterized by faulty DNA damage repair. ...A 3-yea …