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Year Number of Results
1985 1
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2001 4
2002 1
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2004 3
2005 3
2007 2
2008 3
2009 3
2010 1
2011 2
2012 3
2013 5
2014 4
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2016 3
2017 6
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77 results

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Page 1
Alport Syndrome: Achieving Early Diagnosis and Treatment.
Kashtan CE. Kashtan CE. Am J Kidney Dis. 2021 Feb;77(2):272-279. doi: 10.1053/j.ajkd.2020.03.026. Epub 2020 Jul 22. Am J Kidney Dis. 2021. PMID: 32712016 Review.
Alport syndrome is a genetically and phenotypically heterogeneous disorder of glomerular, cochlear, and ocular basement membranes resulting from mutations in the collagen IV genes COL4A3, COL4A4, and COL4A5. Alport syndrome can be transmitted as an X-linked, autosomal r …
Alport syndrome is a genetically and phenotypically heterogeneous disorder of glomerular, cochlear, and ocular basement membranes resulting …
Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.
Stamou MI, Georgopoulos NA. Stamou MI, et al. Metabolism. 2018 Sep;86:124-134. doi: 10.1016/j.metabol.2017.10.012. Epub 2017 Nov 3. Metabolism. 2018. PMID: 29108899 Free PMC article. Review.
Mutations in many different genes are able to explain ~40% of the causes of IGD, with the rest of cases remaining genetically uncharacterized. While most mutations are inherited in X-linked, autosomal dominant, or autosomal recessive pattern, several IGD gene …
Mutations in many different genes are able to explain ~40% of the causes of IGD, with the rest of cases remaining genetically uncharacterize …
Genotype-phenotype correlations and nephroprotective effects of RAAS inhibition in patients with autosomal recessive Alport syndrome.
Zhang Y, Böckhaus J, Wang F, Wang S, Rubel D, Gross O, Ding J. Zhang Y, et al. Pediatr Nephrol. 2021 Sep;36(9):2719-2730. doi: 10.1007/s00467-021-05040-9. Epub 2021 Mar 27. Pediatr Nephrol. 2021. PMID: 33772369 Free PMC article.
BACKGROUND: Autosomal recessive Alport syndrome (ARAS) is caused by pathogenic variants in both alleles of either COL4A3 or COL4A4 genes. ...Patients without missense variants had both higher prevalence and earlier onset age of hearing loss, nephrotic- …
BACKGROUND: Autosomal recessive Alport syndrome (ARAS) is caused by pathogenic variants in both alleles of either COL4A3 or CO …
Preimplantation genetic testing for hereditary hearing loss in Chinese population.
Bi Q, Huang S, Wang H, Gao X, Ma M, Han M, Lu S, Kang D, Nourbakhsh A, Yan D, Blanton S, Liu X, Yuan Y, Yao Y, Dai P. Bi Q, et al. J Assist Reprod Genet. 2023 Jul;40(7):1721-1732. doi: 10.1007/s10815-023-02753-8. Epub 2023 Apr 5. J Assist Reprod Genet. 2023. PMID: 37017887 Free PMC article.
PURPOSE: To evaluate the clinical validity of preimplantation genetic testing (PGT) to prevent hereditary hearing loss (HL) in Chinese population. METHODS: A PGT procedure combining multiple annealing and looping-based amplification cycles (MALBAC) and single-nucleo …
PURPOSE: To evaluate the clinical validity of preimplantation genetic testing (PGT) to prevent hereditary hearing loss (HL) in …
Newborn Hearing Screening Results in Patients with Enlarged Vestibular Aqueduct.
Perry J, Sher E, Kawai K, Redfield S, Sun T, Kenna M. Perry J, et al. Laryngoscope. 2023 Oct;133(10):2786-2791. doi: 10.1002/lary.30605. Epub 2023 Feb 10. Laryngoscope. 2023. PMID: 36762450
OBJECTIVES: Enlarged vestibular aqueduct (EVA) is the most common anatomic abnormality contributing to permanent hearing loss (HL) in children. Although the association between EVA and HL is well-documented, the pass rate for the newborn hearing screening (NB …
OBJECTIVES: Enlarged vestibular aqueduct (EVA) is the most common anatomic abnormality contributing to permanent hearing loss …
Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review.
Stephenson KAJ, Whelan L, Zhu J, Dockery A, Wynne NC, Cairns RM, Kirk C, Turner J, Duignan ES, O'Byrne JJ, Silvestri G, Kenna PF, Farrar GJ, Keegan DJ. Stephenson KAJ, et al. Invest Ophthalmol Vis Sci. 2023 Jul 3;64(10):23. doi: 10.1167/iovs.64.10.23. Invest Ophthalmol Vis Sci. 2023. PMID: 37466950 Free PMC article.
PURPOSE: Usher syndrome (USH) is a genetically heterogeneous group of autosomal recessive (AR) syndromic inherited retinal degenerations (IRDs) representing 50% of deaf-blindness. All subtypes include retinitis pigmentosa, sensorineural hearing loss, a …
PURPOSE: Usher syndrome (USH) is a genetically heterogeneous group of autosomal recessive (AR) syndromic inherited retinal deg …
SLC26A4 Phenotypic Variability Influences Intra- and Inter-Familial Diagnosis and Management.
Tawalbeh M, Aburizeg D, Abu Alragheb BO, Alaqrabawi WS, Dardas Z, Srour L, Altarayra BH, Zayed AA, El Omari Z, Azab B. Tawalbeh M, et al. Genes (Basel). 2022 Nov 23;13(12):2192. doi: 10.3390/genes13122192. Genes (Basel). 2022. PMID: 36553459 Free PMC article.
SLC26A4 is one of the most common genes causing autosomal recessive non-syndromic sensorineural hearing loss (SNHL). ...Three unrelated Jordanian families consisting of eight affected individuals with congenital bilateral hearing loss (HL …
SLC26A4 is one of the most common genes causing autosomal recessive non-syndromic sensorineural hearing loss (SN …
Genetic screening for hearing loss.
Hone SW, Smith RJ. Hone SW, et al. Clin Otolaryngol Allied Sci. 2003 Aug;28(4):285-90. doi: 10.1046/j.1365-2273.2003.00700.x. Clin Otolaryngol Allied Sci. 2003. PMID: 12871240 Review.
The recent discovery that mutations in GJB2, the gene that encodes connexin 26 (Cx26), are responsible for up to half the cases of autosomal recessive non-syndromic hearing loss and a significant proportion of sporadic hearing loss has ha …
The recent discovery that mutations in GJB2, the gene that encodes connexin 26 (Cx26), are responsible for up to half the cases of autoso …
Genotype-Phenotype Correlations in TMPRSS3 (DFNB10/DFNB8) with Emphasis on Natural History.
Nisenbaum E, Yan D, Shearer AE, de Joya E, Thielhelm T, Russell N, Staecker H, Chen Z, Holt JR, Liu X. Nisenbaum E, et al. Audiol Neurootol. 2023;28(6):407-419. doi: 10.1159/000528766. Epub 2023 Jun 16. Audiol Neurootol. 2023. PMID: 37331337 Free PMC article. Review.
BACKGROUND: Mutations in TMPRSS3 are an important cause of autosomal recessive non-syndromic hearing loss. The hearing loss associated with mutations in TMPRSS3 is characterized by phenotypic heterogeneity, ranging from mild to profound …
BACKGROUND: Mutations in TMPRSS3 are an important cause of autosomal recessive non-syndromic hearing loss. The …
Alpha-mannosidosis - a review of genetic, clinical findings and options of treatment.
Borgwardt L, Lund AM, Dali CI. Borgwardt L, et al. Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:185-91. Pediatr Endocrinol Rev. 2014. PMID: 25345101 Review.
Alpha-mannosidosis (OMIM 248500) is a rare, autosomal recessive, multisystemic, progressive lysosomal storage disorder caused by a deficiency of alpha-mannosidase. ...In humans, alpha-mannosidosis results in progressive facial- and skeletal abnormalities, motor impa …
Alpha-mannosidosis (OMIM 248500) is a rare, autosomal recessive, multisystemic, progressive lysosomal storage disorder caused …
77 results