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Quoted phrase not found in phrase index: "Hearing loss, autosomal dominant 83"
Page 1
Evaluation of deaf children in a large series in Turkey.
Ozturk O, Silan F, Oghan F, Egeli E, Belli S, Tokmak A, Egeli A, Harputluoglu U, Onder HI, Zafer C. Ozturk O, et al. Int J Pediatr Otorhinolaryngol. 2005 Mar;69(3):367-73. doi: 10.1016/j.ijporl.2004.11.001. Epub 2004 Dec 21. Int J Pediatr Otorhinolaryngol. 2005. PMID: 15733596
We confirmed 136 (15.5%) syndromic deaf children and 19 of them (13.9%) were autosomal recessive (AR), 105 of them (77.2%) were autosomal dominant (AD), six (4.4%) of them were X-linked. ...Three hundred and twenty-two (67.7%) children had profound HL (above …
We confirmed 136 (15.5%) syndromic deaf children and 19 of them (13.9%) were autosomal recessive (AR), 105 of them (77.2%) were au …
Nonsyndromic hearing loss: an analysis of audiograms.
Liu X, Xu L. Liu X, et al. Ann Otol Rhinol Laryngol. 1994 Jun;103(6):428-33. doi: 10.1177/000348949410300602. Ann Otol Rhinol Laryngol. 1994. PMID: 8203808
We examined features of the audiograms of 136 individuals, from 28 families, affected by nonsyndromic genetic hearing loss. There were 83 (12 families) with autosomal dominant (AD) loss, 50 (15 families) with autosomal recessive (A …
We examined features of the audiograms of 136 individuals, from 28 families, affected by nonsyndromic genetic hearing loss. Th …
The Hunter-MacDonald syndrome with expanded phenotype including risk of meningioma: an update and review.
Armstrong L, Graham GE, Schimke RN, Collins DL, Kirse DJ, Costello F, Ardinger HH. Armstrong L, et al. Am J Med Genet A. 2008 Jan 1;146A(1):83-92. doi: 10.1002/ajmg.a.31998. Am J Med Genet A. 2008. PMID: 17972300 Review.
Hunter-MacDonald syndrome (HMS) is a rare, autosomal dominant skeletal dysplasia with multiple malformations. ...Craniofacial manifestations include normal head circumference, tall forehead, bitemporal narrowing, ptosis, short palpebral fissures, and short philtrum. …
Hunter-MacDonald syndrome (HMS) is a rare, autosomal dominant skeletal dysplasia with multiple malformations. ...Craniofacial …
Genetic counselling for handicapped school leavers.
Vowles M. Vowles M. J Med Genet. 1981 Oct;18(5):350-8. doi: 10.1136/jmg.18.5.350. J Med Genet. 1981. PMID: 6460103 Free PMC article.
Of the 299 total handicaps, 25 (8.4%) were thought to be autosomal dominant conditions, 38 (12.7%) to be autosomal recessive conditions, and 8 (2.7%) to be X linked conditions. Empirical risks were given for 145 (48.5%) diagnoses, and general population risks …
Of the 299 total handicaps, 25 (8.4%) were thought to be autosomal dominant conditions, 38 (12.7%) to be autosomal rece …
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness.
Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, Gresele P, Bizzaro N, Malatesta P, Koivisto PA, Longo I, Musso R, Pecoraro C, Iolascon A, Magrini U, Rodriguez Soriano J, Renieri A, Ghiggeri GM, Ravazzolo R, Balduini CL, Savoia A. Seri M, et al. Medicine (Baltimore). 2003 May;82(3):203-15. doi: 10.1097/01.md.0000076006.64510.5c. Medicine (Baltimore). 2003. PMID: 12792306 Free article.
May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are autosomal dominant macrothrombocytopenias distinguished by different combinations of clinical and laboratory signs, such as sensorineural hearing loss, cataract, nephr …
May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are autosomal dominant macrothrombocytopenias …
A novel de novo MYH9 mutation in MYH9-related disease: A case report and review of literature.
Ai Q, Zhao L, Yin J, Jiang L, Jin Q, Hu X, Chen S. Ai Q, et al. Medicine (Baltimore). 2020 Jan;99(4):e18887. doi: 10.1097/MD.0000000000018887. Medicine (Baltimore). 2020. PMID: 31977897 Free PMC article.
INTRODUCTION: MYH9-related disease (MYH9-RD) is a rare autosomal dominant disorder caused by mutations in MYH9, which is responsible for encoding nonmuscle myosin heavy chains IIA (NMMHCIIA). ...Light microscopic examination of peripheral blood films (Wright-Giemsa …
INTRODUCTION: MYH9-related disease (MYH9-RD) is a rare autosomal dominant disorder caused by mutations in MYH9, which is respo …