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Year Number of Results
1981 1
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2012 1
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Page 1
Genetic testing results of children suspected to have Stickler syndrome type collagenopathy after ocular examination.
Khan AO, AlAbdi L, Patel N, Helaby R, Hashem M, Abdulwahab F, AlBadr FB, Alkuraya FS. Khan AO, et al. Mol Genet Genomic Med. 2021 May;9(5):e1628. doi: 10.1002/mgg3.1628. Epub 2021 May 5. Mol Genet Genomic Med. 2021. PMID: 33951325 Free PMC article.
Other recurrent clinical features included flat facies (12/12), hearing impairment (5/12), and prior retinal detachment (4/12). Pathogenic variants for collagenopathy were uncovered in 10/12 children: COL11A1 (heterozygous) in six, COL2A1 (heterozygous) in tw …
Other recurrent clinical features included flat facies (12/12), hearing impairment (5/12), and prior retinal detachment (4/12) …
Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers-Danlos syndrome.
Ayoub S, Ghali N, Angwin C, Baker D, Baffini S, Brady AF, Giovannucci Uzielli ML, Giunta C, Johnson DS, Kosho T, Neas K, Pope FM, Rutsch F, Scarselli G, Sobey G, Vandersteen A, van Dijk FS. Ayoub S, et al. Am J Med Genet A. 2020 May;182(5):994-1007. doi: 10.1002/ajmg.a.61523. Epub 2020 Feb 24. Am J Med Genet A. 2020. PMID: 32091183
To date, 42 patients with aEDS have been published. We report 12 patients with aEDS from 10 families with 6 unpublished individuals and follow-up data on 6 adult patients. ...Hip surgery was performed in 5/12 patients and 3/12 patients underwent spinal surgery. As much as …
To date, 42 patients with aEDS have been published. We report 12 patients with aEDS from 10 families with 6 unpublished individuals a …
Immune-mediated disorders among women carriers of fragile X premutation alleles.
Winarni TI, Chonchaiya W, Sumekar TA, Ashwood P, Morales GM, Tassone F, Nguyen DV, Faradz SM, Van de Water J, Cook K, Hamlin A, Mu Y, Hagerman PJ, Hagerman RJ. Winarni TI, et al. Am J Med Genet A. 2012 Oct;158A(10):2473-81. doi: 10.1002/ajmg.a.35569. Epub 2012 Aug 17. Am J Med Genet A. 2012. PMID: 22903889 Free PMC article.
Among women carriers, autoimmune thyroid disorder was the most common (24.4%), then fibromyalgia (10.2%), irritable bowel syndrome (IBS; 9.9%), Raynaud's phenomenon (7.6%), rheumatoid arthritis (RA; 3.8%), Sjogren syndrome (2.6%), systemic lupus erythematosus (SLE; 2.03%), …
Among women carriers, autoimmune thyroid disorder was the most common (24.4%), then fibromyalgia (10.2%), irritable bowel syndrome (I …
Malformation syndrome of duplication 12q24.1 leads to qter.
Melnyk AR, Weiss L, Van Dyke DL, Jarvi P. Melnyk AR, et al. Am J Med Genet. 1981;10(4):357-65. doi: 10.1002/ajmg.1320100408. Am J Med Genet. 1981. PMID: 7332029
We are reporting a duplication of chromosome 12 distal to band q24.1 in a five-month-old child. His chromosome constitution is 46,XY,-4+der(4),t(4:12)(p16;q24.1)mat. The balanced translocation is also carried by his maternal grandmother and two of the mother's broth …
We are reporting a duplication of chromosome 12 distal to band q24.1 in a five-month-old child. His chromosome constitution is 46,XY,-4+der( …
Effect quantification and value prediction of factors in noninvasive detection for specific fetal copy number variants by semiconductor sequencing.
Zhang C, Liang B, Qiao L, Xuan L, Li H, He Q, Wu X, Lu J, Yu B, Wang T. Zhang C, et al. Mol Genet Genomic Med. 2019 Jul;7(7):e00718. doi: 10.1002/mgg3.718. Epub 2019 May 21. Mol Genet Genomic Med. 2019. PMID: 31115175 Free PMC article.
Abnormal DNA at 0% served as negative control. Sequencing of mixture samples (at 0%, 4%, 12%, and 20%) by Ion Proton Sequencer was performed at flow 500, with WISECONDOR as the pipeline in CNV-calling and bin of 500, 750 and 1,000 kb for counting unique reads. ...Th …
Abnormal DNA at 0% served as negative control. Sequencing of mixture samples (at 0%, 4%, 12%, and 20%) by Ion Proton Sequencer …
The origin of ovarian teratomas.
Parrington JM, West LF, Povey S. Parrington JM, et al. J Med Genet. 1984 Feb;21(1):4-12. doi: 10.1136/jmg.21.1.4. J Med Genet. 1984. PMID: 6363699 Free PMC article.
Markers heterozygous in the patient were completely homozygous in 52% of the teratomas and completely heterozygous in 19%. The remainder showed a mixture of the two, 10% having homozygous centromeres with some heterozygous enzyme markers and 19% having heterozygous centrom …
Markers heterozygous in the patient were completely homozygous in 52% of the teratomas and completely heterozygous in 19%. The remainder sho …
The 3' end prothrombin gene variants in serbian patients with idiopathic thrombophilia.
Aradjanski M, Djordjevic V, Pruner I, Tomic B, Gvozdenov M, Kovac M, Radojkovic D. Aradjanski M, et al. Balkan J Med Genet. 2015 Apr 10;17(2):43-8. doi: 10.2478/bjmg-2014-0073. eCollection 2014 Dec. Balkan J Med Genet. 2015. PMID: 25937797 Free PMC article.
Heterozygous carriers of the FII C20068T gene variant were four times more frequent in patients (4.0%) than in controls (1.0%), but this difference did not reach statistical significance (OR = 4.12; 95% CI 0.45-37.57). Our findings suggest that variant A19911G is no …
Heterozygous carriers of the FII C20068T gene variant were four times more frequent in patients (4.0%) than in controls (1.0%), but this dif …
Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variants.
Muthusamy K, Ferrer A, Klee EW, Wierenga KJ, Gavrilova RH. Muthusamy K, et al. Mol Genet Genomic Med. 2021 Oct;9(10):e1799. doi: 10.1002/mgg3.1799. Epub 2021 Sep 12. Mol Genet Genomic Med. 2021. PMID: 34510819 Free PMC article.
The mean age at onset of first clinical stroke was 51.25 years (range 41-64 years). The mean disease duration was 6.5 years (range 4-12). All individuals had recurrent strokes within the duration of follow-up with a mean number of strokes per patient being 5.5 (rang …
The mean age at onset of first clinical stroke was 51.25 years (range 41-64 years). The mean disease duration was 6.5 years (range 4- …
Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States.
de Graaf G, Buckley F, Skotko BG. de Graaf G, et al. Am J Med Genet A. 2015 Apr;167A(4):756-67. doi: 10.1002/ajmg.a.37001. Am J Med Genet A. 2015. PMID: 25822844
The live birth prevalence for DS in the most recent years (2006-2010) was estimated at 12.6 per 10,000 (95% CI 12.4-12.8), with around 5,300 births annually. During this period, an estimated 3,100 DS-related elective pregnancy terminations were performed in t …
The live birth prevalence for DS in the most recent years (2006-2010) was estimated at 12.6 per 10,000 (95% CI 12.4-12. …
17 results