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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1946 5
1947 10
1948 2
1949 3
1950 2
1951 4
1952 3
1953 1
1954 1
1955 2
1956 2
1958 1
1959 4
1960 2
1961 1
1962 2
1963 2
1964 7
1965 5
1966 6
1967 7
1968 8
1969 12
1970 6
1971 9
1972 6
1973 6
1974 12
1975 13
1976 14
1977 18
1978 11
1979 4
1980 1
1981 6
1982 6
1983 8
1984 6
1985 5
1986 6
1987 4
1988 4
1989 4
1990 7
1991 8
1992 8
1993 4
1994 6
1995 7
1996 8
1997 8
1998 8
1999 13
2000 16
2001 25
2002 23
2003 20
2004 21
2005 22
2006 22
2007 29
2008 20
2009 26
2010 29
2011 43
2012 31
2013 41
2014 42
2015 35
2016 39
2017 35
2018 27
2019 39
2020 52
2021 64
2022 71
2023 83
2024 20

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1,062 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 can be transmitted as an X-linked, autosomal recessive, or autosomal dominant disorder. Individuals with Alport syndrome have a significant lifetime risk for kidney failure, as well as sensorineural deafness and ocular abnormalities. ...
Alport syndrome can be transmitted as an X-linked, autosomal recessive, or autosomal dominant disorder. Individuals with Alport sy …
Wolfram Syndrome: Diagnosis, Management, and Treatment.
Urano F. Urano F. Curr Diab Rep. 2016 Jan;16(1):6. doi: 10.1007/s11892-015-0702-6. Curr Diab Rep. 2016. PMID: 26742931 Free PMC article. Review.
Although there are currently no effective treatments that can delay or reverse the progression of Wolfram syndrome, the use of careful clinical monitoring and supportive care can help relieve the suffering of patients and improve their quality of life. The prognosis …
Although there are currently no effective treatments that can delay or reverse the progression of Wolfram syndrome, the use of carefu …
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.
Mustillo PJ, Sullivan KE, Chinn IK, Notarangelo LD, Haddad E, Davies EG, de la Morena MT, Hartog N, Yu JE, Hernandez-Trujillo VP, Ip W, Franco J, Gambineri E, Hickey SE, Varga E, Markert ML. Mustillo PJ, et al. J Clin Immunol. 2023 Feb;43(2):247-270. doi: 10.1007/s10875-022-01418-y. Epub 2023 Jan 17. J Clin Immunol. 2023. PMID: 36648576 Free PMC article. Review.
Current practices vary widely regarding the immunological work-up and management of patients affected with defects in thymic development (DTD), which include chromosome 22q11.2 microdeletion syndrome (22q11.2del) and other causes of DiGeorge syndrome (DGS) and colob …
Current practices vary widely regarding the immunological work-up and management of patients affected with defects in thymic development (DT …
Prenatal diagnosis.
Kabra M. Kabra M. Indian J Pediatr. 2003 Jan;70(1):81-5. doi: 10.1007/BF02722749. Indian J Pediatr. 2003. PMID: 12619957 Review.
Ethical issues are already around regarding prenatal testing for disabilities like deafness and late onset disorders. The present communication is an effort to present the clinician's perspective of prenatal diagnosis....
Ethical issues are already around regarding prenatal testing for disabilities like deafness and late onset disorders. The present com …
Anosmia: Differential diagnosis, evaluation, and management.
Scangas GA, Bleier BS. Scangas GA, et al. Am J Rhinol Allergy. 2017 Jan 1;31(1):3-7. doi: 10.2500/ajra.2017.31.4403. Am J Rhinol Allergy. 2017. PMID: 28234141 Review.
Outcomes studies have highlighted the profound negative impact of anosmia and parosmia on the overall quality of life. The National Institute on Deafness and Other Communication Disorders estimates that 1.4% of the United States population experiences chronic olfactory dys …
Outcomes studies have highlighted the profound negative impact of anosmia and parosmia on the overall quality of life. The National Institut …
Consensus clinical management guidelines for Alstrom syndrome.
Tahani N, Maffei P, Dollfus H, Paisey R, Valverde D, Milan G, Han JC, Favaretto F, Madathil SC, Dawson C, Armstrong MJ, Warfield AT, Düzenli S, Francomano CA, Gunay-Aygun M, Dassie F, Marion V, Valenti M, Leeson-Beevers K, Chivers A, Steeds R, Barrett T, Geberhiwot T. Tahani N, et al. Orphanet J Rare Dis. 2020 Sep 21;15(1):253. doi: 10.1186/s13023-020-01468-8. Orphanet J Rare Dis. 2020. PMID: 32958032 Free PMC article.
Alstrom Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13. ...ALMS has an estimated incidence of 1 case per 1,000,000 live births and ethnically or geographically isol …
Alstrom Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by autosomal recessive variants in the ALMS1 gene, which …
Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up.
Hefner MA, Fassi E. Hefner MA, et al. Am J Med Genet C Semin Med Genet. 2017 Dec;175(4):407-416. doi: 10.1002/ajmg.c.31589. Epub 2017 Oct 31. Am J Med Genet C Semin Med Genet. 2017. PMID: 29088501 Review.
CHARGE syndrome (CS) is a complex genetic disorder causing multiple birth defects and sensory deficits (hearing, vision, balance, smell). ...
CHARGE syndrome (CS) is a complex genetic disorder causing multiple birth defects and sensory deficits (hearing, vision, balance, sme …
Universal newborn hearing screening: methods and results, obstacles, and benefits.
Wroblewska-Seniuk KE, Dabrowski P, Szyfter W, Mazela J. Wroblewska-Seniuk KE, et al. Pediatr Res. 2017 Mar;81(3):415-422. doi: 10.1038/pr.2016.250. Epub 2016 Nov 18. Pediatr Res. 2017. PMID: 27861465 Review.
The incidence of sensorineural hearing loss ranges from 1 to 3 per 1,000 live births in term healthy neonates, and 2-4 per 100 in high-risk infants, a 10-fold increase. ...
The incidence of sensorineural hearing loss ranges from 1 to 3 per 1,000 live births in term healthy neonates, and 2-4 per 100 in hig …
Impact of COVID-19 on diagnosis and management of newborn hearing loss.
Tu LJ, Benchetrit L, Glovsky CK, Cohen MS. Tu LJ, et al. Int J Pediatr Otorhinolaryngol. 2023 Jul;170:111598. doi: 10.1016/j.ijporl.2023.111598. Epub 2023 May 13. Int J Pediatr Otorhinolaryngol. 2023. PMID: 37207373 Free PMC article.
INTRODUCTION: The COVID-19 pandemic has caused unexpected disruptions in patient care, including adherence to the Early Hearing Detection and Intervention (EHDI) 1-3-6 guidelines. ...However, increased 3-month benchmark HL diagnosis and 6-month benchmark HA i …
INTRODUCTION: The COVID-19 pandemic has caused unexpected disruptions in patient care, including adherence to the Early Hearing Detec …
1,062 results