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

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1964 1
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1978 6
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1980 7
1981 5
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1983 12
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1989 14
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1994 33
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2000 41
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2003 46
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2006 53
2007 57
2008 50
2009 46
2010 61
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2012 79
2013 66
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1,956 results

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Quoted phrase not found in phrase index: "X-linked parkinsonism-spasticity syndrome"
Page 1
Amelogenesis imperfecta.
Crawford PJ, Aldred M, Bloch-Zupan A. Crawford PJ, et al. Orphanet J Rare Dis. 2007 Apr 4;2:17. doi: 10.1186/1750-1172-2-17. Orphanet J Rare Dis. 2007. PMID: 17408482 Free PMC article. Review.
AI exists in isolation or associated with other abnormalities in syndromes. It may show autosomal dominant, autosomal recessive, sex-linked and sporadic inheritance patterns. In families with an X-linked form it has been shown that the disorder may result fro …
AI exists in isolation or associated with other abnormalities in syndromes. It may show autosomal dominant, autosomal recessive, sex- …
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA. Moortgat S, et al. Eur J Hum Genet. 2018 Jan;26(1):64-74. doi: 10.1038/s41431-017-0038-6. Epub 2017 Nov 27. Eur J Hum Genet. 2018. PMID: 29180823 Free PMC article.
Whole-gene duplications and missense variants in the HUWE1 gene (NM_031407.6) have been reported in association with intellectual disability (ID). Increased gene dosage has been observed in males with non-syndromic mild to moderate ID with speech delay. ...In these …
Whole-gene duplications and missense variants in the HUWE1 gene (NM_031407.6) have been reported in association with intellectual disability …
Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS.
Ferrada MA, Sikora KA, Luo Y, Wells KV, Patel B, Groarke EM, Ospina Cardona D, Rominger E, Hoffmann P, Le MT, Deng Z, Quinn KA, Rose E, Tsai WL, Wigerblad G, Goodspeed W, Jones A, Wilson L, Schnappauf O, Laird RS, Kim J, Allen C, Sirajuddin A, Chen M, Gadina M, Calvo KR, Kaplan MJ, Colbert RA, Aksentijevich I, Young NS, Savic S, Kastner DL, Ombrello AK, Beck DB, Grayson PC. Ferrada MA, et al. Arthritis Rheumatol. 2021 Oct;73(10):1886-1895. doi: 10.1002/art.41743. Epub 2021 Aug 31. Arthritis Rheumatol. 2021. PMID: 33779074
OBJECTIVE: Somatic mutations in UBA1 cause a newly defined syndrome known as VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome). ...METHODS: Exome and targeted sequencing of UBA1 was performed in a prospective observational …
OBJECTIVE: Somatic mutations in UBA1 cause a newly defined syndrome known as VEXAS (vacuoles, E1 enzyme, X-linked, auto …
Clinical and genetic features of Japanese cases of MDS associated with VEXAS syndrome.
Kunimoto H, Miura A, Maeda A, Tsuchida N, Uchiyama Y, Kunishita Y, Nakajima Y, Takase-Minegishi K, Yoshimi R, Miyazaki T, Hagihara M, Yamazaki E, Kirino Y, Matsumoto N, Nakajima H. Kunimoto H, et al. Int J Hematol. 2023 Oct;118(4):494-502. doi: 10.1007/s12185-023-03598-8. Epub 2023 Apr 17. Int J Hematol. 2023. PMID: 37062784
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a new disease entity with autoinflammatory disorders (AID) driven by somatic variants in UBA1 that frequently co-exists with myelodysplastic syndromes (MDS). ...Targeted deep …
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a new disease entity with autoinflammatory …
Sex-linked genetic mechanisms and atrial fibrillation risk.
Wren G, Davies W. Wren G, et al. Eur J Med Genet. 2022 Apr;65(4):104459. doi: 10.1016/j.ejmg.2022.104459. Epub 2022 Feb 19. Eur J Med Genet. 2022. PMID: 35189376 Free article. Review.
Here, we consider four sex-linked genetic mechanisms that may influence sex-biased phenotypes related to AF and provide examples of each: X-linked gene dosage, X-linked genomic imprinting, sex-biased autosomal gene expression, and male-limited Y-linked …
Here, we consider four sex-linked genetic mechanisms that may influence sex-biased phenotypes related to AF and provide examples of each: …
X-linked scapuloperoneal syndrome.
Thomas PK, Calne DB, Elliott CF. Thomas PK, et al. J Neurol Neurosurg Psychiatry. 1972 Apr;35(2):208-15. doi: 10.1136/jnnp.35.2.208. J Neurol Neurosurg Psychiatry. 1972. PMID: 4113956 Free PMC article.
Observations are presented on a family with muscular weakness and wasting with an onset in childhood, predominantly affecting the proximal muscles in the upper limbs and the distal muscles in the lower. ...Investigations favoured a myopathic basis. The inheritance was of …
Observations are presented on a family with muscular weakness and wasting with an onset in childhood, predominantly affecting the pro …
Genetics of primary ovarian insufficiency.
Rossetti R, Ferrari I, Bonomi M, Persani L. Rossetti R, et al. Clin Genet. 2017 Feb;91(2):183-198. doi: 10.1111/cge.12921. Epub 2016 Dec 12. Clin Genet. 2017. PMID: 27861765 Review.
However, the age of menopause is an inheritable trait and POI has a strong genetic component. This is confirmed by the existence of several candidate genes, experimental and natural models. The variable expressivity of POI defect may indicate that, this disease may frequen …
However, the age of menopause is an inheritable trait and POI has a strong genetic component. This is confirmed by the existence of several …
Ocular features in Alport syndrome: pathogenesis and clinical significance.
Savige J, Sheth S, Leys A, Nicholson A, Mack HG, Colville D. Savige J, et al. Clin J Am Soc Nephrol. 2015 Apr 7;10(4):703-9. doi: 10.2215/CJN.10581014. Epub 2015 Feb 3. Clin J Am Soc Nephrol. 2015. PMID: 25649157 Free PMC article. Review.
Mutations in the COL4A5 (X-linked), or COL4A3 and COL4A4 (autosomal recessive) genes result in absence of the collagen IV alpha3alpha4alpha5 network from the basement membranes of the cornea, lens capsule, and retina and are associated with corneal opacities, …
Mutations in the COL4A5 (X-linked), or COL4A3 and COL4A4 (autosomal recessive) genes result in absence of the collagen …
Aicardi syndrome.
Rosser T. Rosser T. Arch Neurol. 2003 Oct;60(10):1471-3. doi: 10.1001/archneur.60.10.1471. Arch Neurol. 2003. PMID: 14568821 Review.
The astute observations of Aicardi and colleagues led to the first description of Aicardi syndrome as a triad of infantile spasms, absence of the corpus callosum, and chorioretinal lacunae. Still diagnosed clinically, we now recognize an expanded version of this pro …
The astute observations of Aicardi and colleagues led to the first description of Aicardi syndrome as a triad of infantile spa …
The telecanthus-hypospadias syndrome.
Stevens CA, Wilroy RS Jr. Stevens CA, et al. J Med Genet. 1988 Aug;25(8):536-42. doi: 10.1136/jmg.25.8.536. J Med Genet. 1988. PMID: 3050099 Free PMC article. Review.
There is also an increased incidence of like-sex twinning, 11/18 in our families. This syndrome must be more common than reflected in published reports. Based upon the observation that males are much more severely affected than females and the lack of male to male t …
There is also an increased incidence of like-sex twinning, 11/18 in our families. This syndrome must be more common than reflected in …
1,956 results