370 related articles for article (PubMed ID: 26153892)
1. Detection of Hereditary 1,25-Hydroxyvitamin D-Resistant Rickets Caused by Uniparental Disomy of Chromosome 12 Using Genome-Wide Single Nucleotide Polymorphism Array.
Tamura M; Isojima T; Kawashima M; Yoshida H; Yamamoto K; Kitaoka T; Namba N; Oka A; Ozono K; Tokunaga K; Kitanaka S
PLoS One; 2015; 10(7):e0131157. PubMed ID: 26153892
[TBL] [Abstract][Full Text] [Related]
2. Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor.
Malloy PJ; Zhou Y; Wang J; Hiort O; Feldman D
J Bone Miner Res; 2011 Nov; 26(11):2710-8. PubMed ID: 21812032
[TBL] [Abstract][Full Text] [Related]
3. Uniparental isodisomy caused autosomal recessive diseases: NGS-based analysis allows the concurrent detection of homogenous variants and copy-neutral loss of heterozygosity.
Xiao B; Wang L; Liu H; Fan Y; Xu Y; Sun Y; Qiu W
Mol Genet Genomic Med; 2019 Oct; 7(10):e00945. PubMed ID: 31454184
[TBL] [Abstract][Full Text] [Related]
4. Compound heterozygous mutations in the vitamin D receptor in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia.
Zhou Y; Wang J; Malloy PJ; Dolezel Z; Feldman D
J Bone Miner Res; 2009 Apr; 24(4):643-51. PubMed ID: 19049339
[TBL] [Abstract][Full Text] [Related]
5. Microarray analysis unmasked paternal uniparental disomy of chromosome 12 in a patient with isolated sulfite oxidase deficiency.
Cho SY; Goh DL; Lau KC; Ong HT; Lam CW
Clin Chim Acta; 2013 Nov; 426():13-7. PubMed ID: 23994568
[TBL] [Abstract][Full Text] [Related]
6. Perinatal hypophosphatasia caused by uniparental isodisomy.
Watanabe A; Satoh S; Fujita A; Naing BT; Orimo H; Shimada T
Bone; 2014 Mar; 60():93-7. PubMed ID: 24334170
[TBL] [Abstract][Full Text] [Related]
7. Paternal uniparental isodisomy of chromosome 22 in a patient with metachromatic leukodystrophy.
Niida Y; Kuroda M; Mitani Y; Yokoi A; Ozaki M
J Hum Genet; 2012 Oct; 57(10):687-90. PubMed ID: 22854541
[TBL] [Abstract][Full Text] [Related]
8. Enteral calcium infusion used successfully as treatment for a patient with hereditary vitamin D resistant rickets (HVDRR) without alopecia: a novel mutation.
Huang K; Malloy P; Feldman D; Pitukcheewanont P
Gene; 2013 Jan; 512(2):554-9. PubMed ID: 23026218
[TBL] [Abstract][Full Text] [Related]
9. Uniparental disomy analysis in trios using genome-wide SNP array and whole-genome sequencing data imply segmental uniparental isodisomy in general populations.
Sasaki K; Mishima H; Miura K; Yoshiura K
Gene; 2013 Jan; 512(2):267-74. PubMed ID: 23111162
[TBL] [Abstract][Full Text] [Related]
10. Hereditary 1,25-dihydroxyvitamin D-resistant rickets due to an opal mutation causing premature termination of the vitamin D receptor.
Zhu W; Malloy PJ; Delvin E; Chabot G; Feldman D
J Bone Miner Res; 1998 Feb; 13(2):259-64. PubMed ID: 9495519
[TBL] [Abstract][Full Text] [Related]
11. LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy.
Soler-Palacín P; Garcia-Prat M; Martín-Nalda A; Franco-Jarava C; Rivière JG; Plaja A; Bezdan D; Bosio M; Martínez-Gallo M; Ossowski S; Colobran R
Front Immunol; 2018; 9():2397. PubMed ID: 30386343
[TBL] [Abstract][Full Text] [Related]
12. A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth.
Nakamura A; Muroya K; Ogata-Kawata H; Nakabayashi K; Matsubara K; Ogata T; Kurosawa K; Fukami M; Kagami M
J Med Genet; 2018 Aug; 55(8):567-570. PubMed ID: 29455159
[TBL] [Abstract][Full Text] [Related]
13. Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology.
Cottrell CE; Mendell J; Hart-Kothari M; Ell D; Thrush DL; Astbury C; Pastore M; Gastier-Foster JM; Pyatt RE
Clin Genet; 2012 Jun; 81(6):578-83. PubMed ID: 21480868
[TBL] [Abstract][Full Text] [Related]
14. Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness.
Malloy PJ; Eccleshall TR; Gross C; Van Maldergem L; Bouillon R; Feldman D
J Clin Invest; 1997 Jan; 99(2):297-304. PubMed ID: 9005998
[TBL] [Abstract][Full Text] [Related]
15. Paternal or Maternal Uniparental Disomy of Chromosome 16 Resulting in Homozygosity of a Mutant Allele Causes Fanconi Anemia.
Donovan FX; Kimble DC; Kim Y; Lach FP; Harper U; Kamat A; Jones M; Sanborn EM; Tryon R; Wagner JE; MacMillan ML; Ostrander EA; Auerbach AD; Smogorzewska A; Chandrasekharappa SC
Hum Mutat; 2016 May; 37(5):465-8. PubMed ID: 26841305
[TBL] [Abstract][Full Text] [Related]
16. Multiple methods used for type detection of uniparental disomy in paternity testing.
Su H; Sun T; Chen M; Liu J; Wang X; Chen Y; Ren W; Zhang G; Yan J; Yun K
Int J Legal Med; 2020 May; 134(3):885-893. PubMed ID: 31807870
[TBL] [Abstract][Full Text] [Related]
17. Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.
Roosing S; van den Born LI; Hoyng CB; Thiadens AA; de Baere E; Collin RW; Koenekoop RK; Leroy BP; van Moll-Ramirez N; Venselaar H; Riemslag FC; Cremers FP; Klaver CC; den Hollander AI
Ophthalmology; 2013 Jun; 120(6):1239-46. PubMed ID: 23499059
[TBL] [Abstract][Full Text] [Related]
18. A novel nonsense mutation in the ligand binding domain of the vitamin D receptor causes hereditary 1,25-dihydroxyvitamin D-resistant rickets.
Malloy PJ; Zhu W; Bouillon R; Feldman D
Mol Genet Metab; 2002 Dec; 77(4):314-8. PubMed ID: 12468277
[TBL] [Abstract][Full Text] [Related]
19. Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1.
Zeng WQ; Gao H; Brueton L; Hutchin T; Gray G; Chakrapani A; Olpin S; Shih VE
Am J Med Genet A; 2006 May; 140(9):1004-9. PubMed ID: 16575891
[TBL] [Abstract][Full Text] [Related]
20. Genome-wide single-nucleotide polymorphism analysis in juvenile myelomonocytic leukemia identifies uniparental disomy surrounding the NF1 locus in cases associated with neurofibromatosis but not in cases with mutant RAS or PTPN11.
Flotho C; Steinemann D; Mullighan CG; Neale G; Mayer K; Kratz CP; Schlegelberger B; Downing JR; Niemeyer CM
Oncogene; 2007 Aug; 26(39):5816-21. PubMed ID: 17353900
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
