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A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00255-8
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- Article
A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00203-y
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- Article
Further delineation of SET‐related intellectual disability syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1595, doi. 10.1002/ajmg.a.62681
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- Article
Case reports of pregnancies complicated with kidney disease and their fetal prognosis.
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- Kawasaki Medical Journal, 2021, v. 47, p. 33, doi. 10.11482/KMJ-E202147033
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- Article
Tumor predisposition in an individual with chromosomal rearrangements of 1q31.2‐q41 encompassing cell division cycle protein 73.
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- Congenital Anomalies, 2020, v. 60, n. 4, p. 128, doi. 10.1111/cga.12356
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- Article
Developmental delay and dysmorphic features in a girl with a de novo 5.4 Mb deletion of 13q12.11‐q12.13.
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- Congenital Anomalies, 2020, v. 60, n. 2, p. 73, doi. 10.1111/cga.12346
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- Article
Home-based subcutaneous immunoglobulin after switch from intravenous immunoglobulin improved quality of life in pediatric patient with common variable immunodeficiency A case report.
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- Kawasaki Medical Journal, 2020, v. 46, p. 35, doi. 10.11482/KMJ-E202046035
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- Article
Novel USP9X variants in two patients with X-linked intellectual disability.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0081-7
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- Article
Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0067-5
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- Article
Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 389, doi. 10.1002/ajmg.a.36813
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- Article
De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1550, doi. 10.1002/ajmg.a.36477
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- Article
Pure duplication of 19p13.3.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 9, p. 2300, doi. 10.1002/ajmg.a.36041
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- Article
Ehlers-Danlos syndrome, vascular type: A novel missense mutation in the COL3A1 gene.
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- Congenital Anomalies, 2012, v. 52, n. 4, p. 207, doi. 10.1111/j.1741-4520.2011.00353.x
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- Article
Expression analysis of a 17p terminal deletion, including YWHAE, but not PAFAH1B1, associated with normal brain structure on MRI in a young girl.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2347, doi. 10.1002/ajmg.a.35542
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- Article
Spastic quadriplegia in Down syndrome with congenital duodenal stenosis/atresia.
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- Congenital Anomalies, 2012, v. 52, n. 2, p. 78, doi. 10.1111/j.1741-4520.2012.00357.x
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- Article
Sirenomelia with a de novo balanced translocation 46,X,t(X;16)(p11.23;p12.3).
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- Congenital Anomalies, 2012, v. 52, n. 2, p. 106, doi. 10.1111/j.1741-4520.2011.00326.x
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- Article
Trends in occurrence of twin births in Japan.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 75, doi. 10.1002/ajmg.a.34362
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- Article
Severe upper airway stenosis in a boy with partial monosomy 16p13.3pter and partial trisomy 16q22qter.
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- Congenital Anomalies, 2009, v. 49, n. 2, p. 85, doi. 10.1111/j.1741-4520.2009.00228.x
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- Article
Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: Report of two cases and review of the literature.
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- Congenital Anomalies, 2009, v. 49, n. 1, p. 8, doi. 10.1111/j.1741-4520.2008.00212.x
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- Article
Neuroradiologic Findings in Sotos Syndrome.
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- Journal of Child Neurology, 2006, v. 21, n. 7, p. 614, doi. 10.1177/08830738060210071001
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- Article
Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome.
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- Human Genetics, 2004, v. 114, n. 4, p. 345
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- Article
Gonadal sex cord stromal tumor in a patient with Rubinstein-Taybi syndrome.
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- Pediatrics International, 2002, v. 44, n. 3, p. 330, doi. 10.1046/j.1442-200X.2002.01539.x
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- Article
Haploinsufficiency of NSD1 causes Sotos syndrome.
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- Nature Genetics, 2002, v. 30, n. 4, p. 365, doi. 10.1038/ng863
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- Article
Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome.
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- Human Molecular Genetics, 2001, v. 10, n. 10, p. 1071, doi. 10.1093/hmg/10.10.1071
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- Article
Cloning of translocation breakpoints associated with Shwachman syndrome and identification of a candidate gene.
- Published in:
- Clinical Genetics, 1999, v. 55, n. 6, p. 466, doi. 10.1034/j.1399-0004.1999.550612.x
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- Article
Gonadoblastoma, mixed germ cell tumor, and Y chromosomal genotype: Molecular analysis in four patients.
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- Genes, Chromosomes & Cancer, 1999, v. 25, n. 1, p. 40, doi. 10.1002/(SICI)1098-2264(199905)25:1<40::AID-GCC6>3.0.CO;2-8
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- Article
Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients.
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- Journal of Human Genetics, 1999, v. 44, n. 1, p. 48, doi. 10.1007/s100380050106
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- Article
Brother/sister siblings affected with Hunter disease: evidence for skewed X chromosome inactivation.
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- Clinical Genetics, 1998, v. 53, n. 2, p. 96, doi. 10.1111/j.1399-0004.1998.tb02654.x
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- Article
Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele.
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- Human Mutation, 1997, v. 10, n. 5, p. 361, doi. 10.1002/(SICI)1098-1004(1997)10:5<361::AID-HUMU5>3.0.CO;2-I
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- Article
Life-threatening cardiac involvement throughout life in a case of Costello syndrome.
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- Clinical Genetics, 1996, v. 50, n. 4, p. 244, doi. 10.1111/j.1399-0004.1996.tb02636.x
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- Article
Mucopolysaccharidosis IVA: Submicroscopic deletion of 16q24.3 and a novel R386C mutation of n-acetylgalactosamine-6-sulfate sulfatase gene in a classical Morquio disease.
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- Human Mutation, 1996, v. 7, n. 2, p. 123, doi. 10.1002/(SICI)1098-1004(1996)7:2<123::AID-HUMU6>3.0.CO;2-D
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- Article
Male with type II autosomal recessive cutis laxa.
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- Clinical Genetics, 1994, v. 45, n. 1, p. 40, doi. 10.1111/j.1399-0004.1994.tb03988.x
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- Article
Interstitial deletion of 17pl 1.2 with brain abnormalities.
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- Clinical Genetics, 1992, v. 41, n. 5, p. 278, doi. 10.1111/j.1399-0004.1992.tb03682.x
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- Article
Terminal 7q deletion as a cause of holoprosencephaly.
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- Clinical Genetics, 1990, v. 37, n. 3, p. 238, doi. 10.1111/j.1399-0004.1990.tb03511.x
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- Article
Restriction Fragment Length Polymorphism Analysis in Healthy Japanese Individuals and Japanese Families with Gaucher Disease.
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- Pediatrics International, 1989, v. 31, n. 2, p. 158, doi. 10.1111/j.1442-200X.1989.tb01282.x
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- Publication type:
- Article