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A case of XY pure gonadal dysgenesis with 46,XYp-/47,XXYp- karyotype whose gonadoblastoma was removed laparoscopically.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Noonan syndrome and its related disorders.
- Published in:
- Pediatrics International, 1996, v. 38, n. 1, p. 102, doi. 10.1111/j.1442-200X.1996.tb03447.x
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- Publication type:
- Article
Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan.
- Published in:
- Journal of Human Genetics, 2013, v. 58, n. 8, p. 560, doi. 10.1038/jhg.2013.34
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- Publication type:
- Article
Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 2, p. 156, doi. 10.1038/jhg.2010.155
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- Publication type:
- Article
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 2, p. 110, doi. 10.1038/jhg.2010.129
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- Publication type:
- Article
Cerebral hemorrhage in Fabry's disease.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 4, p. 259, doi. 10.1038/jhg.2010.18
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- Publication type:
- Article
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.
- Published in:
- Journal of Human Genetics, 2009, v. 54, n. 5, p. 304, doi. 10.1038/jhg.2009.30
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- Publication type:
- Article
A genomewide linkage analysis of Kawasaki disease: evidence for linkage to chromosome 12.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 2, p. 179, doi. 10.1007/s10038-006-0092-3
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- Publication type:
- Article
A −16C>T substitution in the 5′ UTR of the puratrophin-1 gene is prevalent in autosomal dominant cerebellar ataxia in Nagano.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 5, p. 461, doi. 10.1007/s10038-006-0385-6
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- Publication type:
- Article
Molecular characterization of a novel translocation t(5;14)(q21;q32) in a patient with congenital abnormalities.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 4, p. 335, doi. 10.1007/s10038-006-0365-x
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- Publication type:
- Article
Regional features of autosomal-dominant cerebellar ataxia in Nagano: clinical and molecular genetic analysis of 86 families.
- Published in:
- Journal of Human Genetics, 2004, v. 49, n. 11, p. 610, doi. 10.1007/s10038-004-0196-6
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- Publication type:
- Article
The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus.
- Published in:
- Journal of Human Genetics, 2004, v. 49, n. 7, p. 360, doi. 10.1007/s10038-004-0158-z
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- Publication type:
- Article
Guidelines for genetic testing.
- Published in:
- Journal of Human Genetics, 2001, v. 46, n. 3, p. 163, doi. 10.1007/s100380170107
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- Publication type:
- Article
Novel MEN1 gene mutations in familial multiple endocrine neoplasia type 1.
- Published in:
- Journal of Human Genetics, 1998, v. 43, n. 3, p. 199, doi. 10.1007/s100380050070
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- Publication type:
- Article
The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32.
- Published in:
- Journal of Human Genetics, 1998, v. 43, n. 1, p. 32, doi. 10.1007/s100380050033
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- Publication type:
- Article
Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2175, doi. 10.1002/ajmg.a.62216
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- Publication type:
- Article
PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 948, doi. 10.1002/ajmg.a.61142
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- Publication type:
- Article
Elevation of neuron specific enolase and brain iron deposition on susceptibility-weighted imaging as diagnostic clues for beta-propeller protein-associated neurodegeneration in early childhood: Additional case report and review of the literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 322, doi. 10.1002/ajmg.a.37432
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- Publication type:
- Article
Renal complications in 6p duplication syndrome: Microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS).
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 3, p. 592, doi. 10.1002/ajmg.a.36942
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- Publication type:
- Article
A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentigines.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 2, p. 407, doi. 10.1002/ajmg.a.36842
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- Publication type:
- Article
Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: A clinical report and review of literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1272, doi. 10.1002/ajmg.a.36433
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- Publication type:
- Article
Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 597, doi. 10.1002/ajmg.a.36308
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- Publication type:
- Article
Surgical intervention for esophageal atresia in patients with trisomy 18.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 324, doi. 10.1002/ajmg.a.36294
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- Publication type:
- Article
'Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome' Am J Med Genet. 161:518-526, 2013.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2685, doi. 10.1002/ajmg.a.36113
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- Publication type:
- Article
Clinical consequences in truncating mutations in exon 34 of NOTCH2: Report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 3, p. 518, doi. 10.1002/ajmg.a.35772
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- Publication type:
- Article
Neurodevelopmental features in 2q23.1 microdeletion syndrome: Report of a new patient with intractable seizures and review of literature.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 4, p. 861, doi. 10.1002/ajmg.a.35235
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- Publication type:
- Article
Myelodysplastic syndrome in a child with 15q24 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 412, doi. 10.1002/ajmg.a.34395
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- Publication type:
- Article
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 4, p. 376, doi. 10.1038/ng.2219
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- Publication type:
- Article
ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms.
- Published in:
- Nature Genetics, 2008, v. 40, n. 1, p. 35, doi. 10.1038/ng.2007.59
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- Publication type:
- Article
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease.
- Published in:
- Nature Genetics, 2000, v. 26, n. 1, p. 19, doi. 10.1038/79128
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- Publication type:
- Article
Visualization of the spatial positioning of the SNRPN, UBE3A, and GABRB3 genes in the normal human nucleus by three-color 3D fluorescence in situ hybridization.
- Published in:
- Chromosome Research, 2012, v. 20, n. 6, p. 659, doi. 10.1007/s10577-012-9300-5
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- Publication type:
- Article
Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease.
- Published in:
- Prenatal Diagnosis, 2001, v. 21, n. 13, p. 1133, doi. 10.1002/pd.186
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- Publication type:
- Article
Minute chromosomal rearrangements detected prenatally by fluorescence in situ hybridization.
- Published in:
- Prenatal Diagnosis, 1998, v. 18, n. 7, p. 725, doi. 10.1002/(SICI)1097-0223(199807)18:7<725::AID-PD323>3.0.CO;2-6
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- Publication type:
- Article
Comprehensive genetics clinic for familial tumors: proposal for a suitable system in Japan.
- Published in:
- International Journal of Clinical Oncology, 2004, v. 9, n. 4, p. 304, doi. 10.1007/s10147-004-0405-5
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- Publication type:
- Article
Sex-Determining Gene(s) on Distal 9p: Clinical and Molecular Studies in Six Cases.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2000, v. 85, n. 9, p. 3094, doi. 10.1210/jcem.85.9.6771
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- Publication type:
- Article
Familial neuroendocrine tumor syndromes: From genetics to clinical practice.
- Published in:
- Pituitary, 2006, v. 9, n. 3, p. 231, doi. 10.1007/s11102-006-0268-z
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- Publication type:
- Article
Diagnostic performance of hybrid cardiac SPECT/CT imaging for patients with takotsubo cardiomyopathy.
- Published in:
- European Journal of Hybrid Imaging, 2018, v. 2, n. 1, p. N.PAG, doi. 10.1186/s41824-017-0023-x
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- Publication type:
- Article
Novel Artemis gene mutations of radiosensitive severe combined immunodeficiency in Japanese families.
- Published in:
- Human Genetics, 2003, v. 112, n. 4, p. 348, doi. 10.1007/s00439-002-0897-x
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- Publication type:
- Article
CD40 ligand gene and Kawasaki disease.
- Published in:
- European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1062, doi. 10.1038/sj.ejhg.5201266
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- Publication type:
- Article
An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12–q12.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 7, p. 535, doi. 10.1038/sj.ejhg.5200485
- By:
- Publication type:
- Article
Sex-dependent regulation of hepatic peroxisome proliferation in mice by trichloroethylene via peroxisome proliferator-activated receptor α (PPARα).
- Published in:
- Carcinogenesis, 2000, v. 21, n. 4, p. 677, doi. 10.1093/carcin/21.4.677
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- Publication type:
- Article
Response to Breton et al. specificity of TP53 mutation screening methods in cancerous tissues.
- Published in:
- International Journal of Cancer, 2006, v. 118, n. 1, p. 256, doi. 10.1002/ijc.21224
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- Publication type:
- Article
DHPLC is superior to SSCP in screening p53 mutations in esophageal cancer tissues.
- Published in:
- International Journal of Cancer, 2005, v. 114, n. 1, p. 74, doi. 10.1002/ijc.20712
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- Publication type:
- Article
Novel 14 Base-Pair Deletion of the MEN1 Gene in a Patient with Recurrent Primary Hyperparathyroidism.
- Published in:
- Japanese Journal of Clinical Oncology, 2006, v. 36, n. 6, p. 395, doi. 10.1093/jjco/hyl023
- By:
- Publication type:
- Article
A Novel Non-pathogenetic Polymorphism of the APC Gene in a Patient with Familial Adenomatous Polyposis Coli.
- Published in:
- Japanese Journal of Clinical Oncology, 2000, v. 30, n. 4, doi. 10.1093/jjco/hyd042
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- Publication type:
- Article
Prognostic Value of Myocardial Perfusion SPECT After Intravenous Bolus Administration of Nicorandil in Patients with Acute Ischemic Heart Failure.
- Published in:
- Journal of Nuclear Medicine, 2016, v. 57, n. 3, p. 385, doi. 10.2967/jnumed.115.162420
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- Publication type:
- Article
Imaging Angiogenesis Using <sup>99m</sup>Tc-Macroaggregated Albumin Scintigraphy in Patients with Peripheral Artery Disease.
- Published in:
- Journal of Nuclear Medicine, 2016, v. 57, n. 2, p. 192, doi. 10.2967/jnumed.115.160937
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- Publication type:
- Article
Correction to: Serial change in perfusion–metabolism mismatch after coronary artery bypass grafting.
- Published in:
- 2022
- By:
- Publication type:
- Correction Notice
Serial change in perfusion–metabolism mismatch after coronary artery bypass grafting.
- Published in:
- Annals of Nuclear Medicine, 2022, v. 36, n. 3, p. 244, doi. 10.1007/s12149-021-01696-3
- By:
- Publication type:
- Article
Feasibility of combined risk stratification with coronary CT angiography and stress myocardial SPECT in patients with chronic coronary artery disease.
- Published in:
- 2018
- By:
- Publication type:
- journal article