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

Year Number of Results
1970 1
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1972 2
1974 1
1975 2
1977 1
1979 3
1982 1
1986 1
1988 1
1990 2
1991 2
1992 5
1993 3
1994 8
1995 7
1996 5
1997 10
1998 6
1999 4
2000 12
2001 7
2002 1
2003 10
2004 3
2005 1
2006 7
2007 4
2008 3
2009 3
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2011 5
2012 8
2013 7
2014 3
2015 4
2016 3
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2019 5
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2022 5
2023 5

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165 results

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Page 1
Review and update of mutations causing Waardenburg syndrome.
Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. Pingault V, et al. Hum Mutat. 2010 Apr;31(4):391-406. doi: 10.1002/humu.21211. Hum Mutat. 2010. PMID: 20127975 Free article. Review.
Waardenburg syndrome (WS) is characterized by the association of pigmentation abnormalities, including depigmented patches of the skin and hair, vivid blue eyes or heterochromia irides, and sensorineural hearing loss. However, other features such as dystopia canthor
Waardenburg syndrome (WS) is characterized by the association of pigmentation abnormalities, including depigmented patches of
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR. Ashrafi MR, et al. Expert Rev Neurother. 2020 Jan;20(1):65-84. doi: 10.1080/14737175.2020.1699060. Epub 2019 Dec 12. Expert Rev Neurother. 2020. PMID: 31829048 Review.
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affected population.Expert opinion: The improvements in molecular diagnostic tools allow us to identify the meticulous underlying etiology of leu …
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affec …
Oculocutaneous albinism.
Grønskov K, Ek J, Brondum-Nielsen K. Grønskov K, et al. Orphanet J Rare Dis. 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43. Orphanet J Rare Dis. 2007. PMID: 17980020 Free PMC article. Review.
The degree of skin and hair hypopigmentation varies with the type of OCA. The incidence of skin cancer may be increased. All four types of OCA are inherited as autosomal recessive disorders. ...Differential diagnosis includes ocular albinism, Hermansky-Pudlak syndrome
The degree of skin and hair hypopigmentation varies with the type of OCA. The incidence of skin cancer may be increased. All four typ …
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.
Pingault V, Zerad L, Bertani-Torres W, Bondurand N. Pingault V, et al. J Med Genet. 2022 Feb;59(2):105-114. doi: 10.1136/jmedgenet-2021-108105. Epub 2021 Oct 19. J Med Genet. 2022. PMID: 34667088 Free PMC article. Review.
SOX10 belongs to a family of 20 SRY (sex-determining region Y)-related high mobility group box-containing (SOX) proteins, most of which contribute to cell type specification and differentiation of various lineages. The first clue that SOX10 is essential for development, es …
SOX10 belongs to a family of 20 SRY (sex-determining region Y)-related high mobility group box-containing (SOX) proteins, most of which cont …
Obstructive sleep disordered breathing in 2- to 18-year-old children: diagnosis and management.
Kaditis AG, Alonso Alvarez ML, Boudewyns A, Alexopoulos EI, Ersu R, Joosten K, Larramona H, Miano S, Narang I, Trang H, Tsaoussoglou M, Vandenbussche N, Villa MP, Van Waardenburg D, Weber S, Verhulst S. Kaditis AG, et al. Eur Respir J. 2016 Jan;47(1):69-94. doi: 10.1183/13993003.00385-2015. Epub 2015 Nov 5. Eur Respir J. 2016. PMID: 26541535 Free article. Review.
Central nervous or cardiovascular system morbidity, growth failure or enuresis and predictors of SDB persistence in the long-term are recognised (steps 2 and 3), and SDB severity is determined objectively preferably using polysomnography (step 4). Children with an apnoea-h …
Central nervous or cardiovascular system morbidity, growth failure or enuresis and predictors of SDB persistence in the long-term are recogn …
Hirschsprung disease.
Montalva L, Cheng LS, Kapur R, Langer JC, Berrebi D, Kyrklund K, Pakarinen M, de Blaauw I, Bonnard A, Gosain A. Montalva L, et al. Nat Rev Dis Primers. 2023 Oct 12;9(1):54. doi: 10.1038/s41572-023-00465-y. Nat Rev Dis Primers. 2023. PMID: 37828049 Review.
Syndromes associated with HSCR include trisomy 21, Mowat-Wilson syndrome, congenital central hypoventilation syndrome, Shah-Waardenburg syndrome and cartilage-hair hypoplasia. ...
Syndromes associated with HSCR include trisomy 21, Mowat-Wilson syndrome, congenital central hypoventilation syndrome, Shah- …
Albinism.
François J. François J. Ophthalmologica. 1979;178(1-2):19-31. doi: 10.1159/000308802. Ophthalmologica. 1979. PMID: 108645 Review.
There are seven forms of oculo-cutaneous albinism, which are all autosomal recessive: three are tyrosinase-negative (complete oculo-cutaneous albinism, Amish albinism, Hermansky-Pudlak syndrome) and four are tyrosinase-positive (incomplete oculo-cutaneous albinism, Chediak …
There are seven forms of oculo-cutaneous albinism, which are all autosomal recessive: three are tyrosinase-negative (complete oculo-cutaneou …
[Hereditary hearing loss].
Tropitzsch A, Schade-Mann T, Gamerdinger P. Tropitzsch A, et al. HNO. 2023 Feb;71(2):131-142. doi: 10.1007/s00106-022-01254-x. Epub 2022 Dec 16. HNO. 2023. PMID: 36526931 Review. German.
Some of the most common syndromes (Usher, Pendred, Jervell-Lange-Nielsen, Waardenburg, branchiootorenal, and Alport syndrome) are introductorily described. ...
Some of the most common syndromes (Usher, Pendred, Jervell-Lange-Nielsen, Waardenburg, branchiootorenal, and Alport syndrome) …
Waardenburg syndrome.
Read AP, Newton VE. Read AP, et al. J Med Genet. 1997 Aug;34(8):656-65. doi: 10.1136/jmg.34.8.656. J Med Genet. 1997. PMID: 9279758 Free PMC article. Review.
Type III WS (Klein-Waardenburg syndrome, with abnormalities of the arms) is an extreme presentation of type I; some but not all patients are homozygotes. Type IV WS (Shah-Waardenburg syndrome with Hirschsprung disease) can be cause
Type III WS (Klein-Waardenburg syndrome, with abnormalities of the arms) is an extreme presentation of type I; s
Waardenburg syndrome type II: phenotypic findings and diagnostic criteria.
Liu XZ, Newton VE, Read AP. Liu XZ, et al. Am J Med Genet. 1995 Jan 2;55(1):95-100. doi: 10.1002/ajmg.1320550123. Am J Med Genet. 1995. PMID: 7702105 Review.
The Waardenburg syndrome (WS) consists of at least two distinct autosomal dominant hereditary disorders. ...To establish diagnostic criteria for WS Type II, 81 individuals from 21 families with Type II WS were personally studied, and compared with 60 p …
The Waardenburg syndrome (WS) consists of at least two distinct autosomal dominant hereditary disorders. ...To establish diagn …
165 results