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Quoted phrase not found in phrase index: "Hearing loss, autosomal dominant 78"
Page 1
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
Furlano M, Martínez V, Pybus M, Arce Y, Crespí J, Venegas MDP, Bullich G, Domingo A, Ayasreh N, Benito S, Lorente L, Ruíz P, Gonzalez VL, Arlandis R, Cabello E, Torres F, Guirado L, Ars E, Torra R. Furlano M, et al. Am J Kidney Dis. 2021 Oct;78(4):560-570.e1. doi: 10.1053/j.ajkd.2021.02.326. Epub 2021 Apr 7. Am J Kidney Dis. 2021. PMID: 33838161 Free article.
The aim of this study was to evaluate the clinical and genetic spectrum of patients with autosomal dominant Alport syndrome (ADAS). STUDY DESIGN: Retrospective cohort study. ...
The aim of this study was to evaluate the clinical and genetic spectrum of patients with autosomal dominant Alport syndrome (A …
KBG syndrome.
Brancati F, Sarkozy A, Dallapiccola B. Brancati F, et al. Orphanet J Rare Dis. 2006 Dec 12;1:50. doi: 10.1186/1750-1172-1-50. Orphanet J Rare Dis. 2006. PMID: 17163996 Free PMC article. Review.
Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG) anomalies (with or without seizures) and abnormal hair implantation. Cutaneous syndactyly, webbed short neck, cryptorchidism, hearing lo …
Clinical features observed in more than half of patients that may support the diagnosis are short stature, electroencephalogram (EEG) anomal …
May-Hegglin anomaly and pregnancy: a systematic review.
Hussein BA, Gomez K, Kadir RA. Hussein BA, et al. Blood Coagul Fibrinolysis. 2013 Jul;24(5):554-61. doi: 10.1097/MBC.0b013e32835fad03. Blood Coagul Fibrinolysis. 2013. PMID: 23811802 Review.
May-Hegglin anomaly (MHA) is an autosomal dominant disorder, characterized by a variable degree of thrombocytopaenia, large platelets and inclusion bodies in white blood cells. ...There was one secondary PPH that was treated conservatively. Neonatal outcome included …
May-Hegglin anomaly (MHA) is an autosomal dominant disorder, characterized by a variable degree of thrombocytopaenia, large pl …
Hearing loss in patients with osteogenesis imperfecta. A clinical and audiological study of 201 patients.
Pedersen U. Pedersen U. Scand Audiol. 1984;13(2):67-74. doi: 10.3109/01050398409043042. Scand Audiol. 1984. PMID: 6463554
The study covered 76% of the expected total number of patients with osteogenesis imperfecta in Denmark. 78% of the patients exhibited an autosomal dominant inheritance pattern with an almost 100% penetrance. In 39% of the ears examined, a conductive or mixed …
The study covered 76% of the expected total number of patients with osteogenesis imperfecta in Denmark. 78% of the patients exhibited …
Genetic aspects of familial Ménière's disease.
Arweiler-Harbeck D, Horsthemke B, Jahnke K, Hennies HC. Arweiler-Harbeck D, et al. Otol Neurotol. 2011 Jun;32(4):695-700. doi: 10.1097/MAO.0b013e318216074a. Otol Neurotol. 2011. PMID: 21436747
OBJECTIVE: Meniere's disease (MD) is a chronic illness characterized by sensorineural hearing loss, recurring vertigo attacks, and tinnitus. It is possibly of multifactorial origin, although several families with autosomal dominant inheritance and redu …
OBJECTIVE: Meniere's disease (MD) is a chronic illness characterized by sensorineural hearing loss, recurring vertigo attacks, …
Type II autosomal dominant osteopetrosis (Albers-Schonberg disease): clinical and radiological manifestations in 42 patients.
Bénichou OD, Laredo JD, de Vernejoul MC. Bénichou OD, et al. Bone. 2000 Jan;26(1):87-93. doi: 10.1016/s8756-3282(99)00244-6. Bone. 2000. PMID: 10617161
Type II autosomal dominant osteopetrosis (ADO II, Albers-Schonberg disease) is a genetic condition characterized by generalized osteosclerosis predominating in some skeletal sites such as the spine and pelvis. ...Nearly two-thirds of patients (64%) had stomatologic …
Type II autosomal dominant osteopetrosis (ADO II, Albers-Schonberg disease) is a genetic condition characterized by generalize …
COL4A4-related nephropathy caused by a novel mutation in a large consanguineous Saudi family.
Ramzan K, Imtiaz F, Taibah K, Alnufiee S, Akhtar M, Al-Hazzaa SA, Al-Owain M. Ramzan K, et al. Int J Pediatr Otorhinolaryngol. 2014 Mar;78(3):427-32. doi: 10.1016/j.ijporl.2013.12.008. Epub 2013 Dec 18. Int J Pediatr Otorhinolaryngol. 2014. PMID: 24398087
Classical AS is a progressive renal disease presenting with a triad of progressive hematuric nephritis and typical extra-renal complications, such as sensorineural hearing loss (SNHL) and variable ocular anomalies. The mode of inheritance in AS is X-linked in 85%, …
Classical AS is a progressive renal disease presenting with a triad of progressive hematuric nephritis and typical extra-renal complications …
Osteopathia striata with cranial sclerosis and hearing loss.
Lüerssen K, Ptok M. Lüerssen K, et al. Eur Arch Otorhinolaryngol. 2006 Feb;263(2):123-6. doi: 10.1007/s00405-005-0972-8. Epub 2005 Jul 12. Eur Arch Otorhinolaryngol. 2006. PMID: 16010569
The parents and three sisters of the affected child are healthy. In 78.6% of the reported cases with osteopathia striata and hearing loss, a conductive hearing loss was described. ...As a possible alternative, children with osteopathia striata a …
The parents and three sisters of the affected child are healthy. In 78.6% of the reported cases with osteopathia striata and heari …
Exome sequencing identifies a novel frameshift mutation of MYO6 as the cause of autosomal dominant nonsyndromic hearing loss in a Chinese family.
Cheng J, Zhou X, Lu Y, Chen J, Han B, Zhu Y, Liu L, Choy KW, Han D, Sham PC, Zhang MQ, Zhang X, Yuan H. Cheng J, et al. Ann Hum Genet. 2014 Nov;78(6):410-23. doi: 10.1111/ahg.12084. Epub 2014 Sep 17. Ann Hum Genet. 2014. PMID: 25227905
Autosomal dominant types of nonsyndromic hearing loss (ADNSHL) are typically postlingual in onset and progressive. ...
Autosomal dominant types of nonsyndromic hearing loss (ADNSHL) are typically postlingual in onset and progressiv …
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 …
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