Found: 224
Select item for more details and to access through your institution.
The first Japanese case of autosomal dominant cutis laxa with a frameshift mutation in exon 30 of the elastin gene complicated by small airway disease with 8 years of follow-up.
- Published in:
- BMC Pulmonary Medicine, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12890-024-03290-5
- By:
- Publication type:
- Article
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03361-0
- By:
- Publication type:
- Article
Effects of the CYP2D6*10 alleles and co-medication with CYP2D6-dependent drugs on risperidone metabolism in patients with schizophrenia.
- Published in:
- Human Psychopharmacology: Clinical & Experimental, 2009, v. 24, n. 4, p. 301, doi. 10.1002/hup.1025
- By:
- Publication type:
- Article
Characteristic phenotype of immortalized periodontal cells isolated from a Marfan syndrome type I patient.
- Published in:
- Cell & Tissue Research, 2008, v. 331, n. 2, p. 461, doi. 10.1007/s00441-007-0528-x
- By:
- Publication type:
- Article
Successful renal transplantation following hemodialysis as bridging therapy in a patient with Fechtner syndrome: a case report and literature review.
- Published in:
- Renal Replacement Therapy, 2023, v. 9, n. 1, p. 1, doi. 10.1186/s41100-023-00507-x
- By:
- Publication type:
- Article
Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-70831-7
- By:
- Publication type:
- Article
Mexiletine shortens the QT interval in a pedigree of KCNH2 related long QT syndrome.
- Published in:
- Journal of Arrhythmia, 2020, v. 36, n. 1, p. 193, doi. 10.1002/joa3.12300
- By:
- Publication type:
- Article
Development of monomorphic ventricular tachycardia in a patient with fever‐induced Brugada syndrome.
- Published in:
- Journal of Arrhythmia, 2018, v. 34, n. 4, p. 465, doi. 10.1002/joa3.12068
- By:
- Publication type:
- Article
RNF213 -Associated Vascular Disease: A Concept Unifying Various Vasculopathies.
- Published in:
- Life (2075-1729), 2022, v. 12, n. 4, p. N.PAG, doi. 10.3390/life12040555
- By:
- Publication type:
- Article
Survival of a Male Mosaic for PORCN Mutation with Mild Focal Dermal Hypoplasia Phenotype.
- Published in:
- Pediatric Dermatology, 2011, v. 28, n. 5, p. 550, doi. 10.1111/j.1525-1470.2010.01209.x
- By:
- Publication type:
- Article
SALL4 deletion and kidney and cardiac defects associated with VACTERL association.
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 8, p. 2347, doi. 10.1007/s00467-024-06306-8
- By:
- Publication type:
- Article
Epidermodysplasia verruciformis without progression to squamous cell carcinomas in an elderly man: α‐human papillomavirus infection in the evolving verruca.
- Published in:
- International Journal of Dermatology, 2020, v. 59, n. 9, p. e334, doi. 10.1111/ijd.14883
- By:
- Publication type:
- Article
Population Pharmacokinetics of Diazoxide in Children with Hyperinsulinemic Hypoglycemia.
- Published in:
- Hormone Research in Paediatrics, 2017, v. 88, n. 5, p. 316, doi. 10.1159/000478696
- By:
- Publication type:
- Article
Mutation of PTPN11 (Encoding SHP-2) Promotes MEK Activation and Malignant Progression in Neurofibromin-Deficient Cells in a Manner Sensitive to BRAP Mutation.
- Published in:
- Cancers, 2022, v. 14, n. 10, p. 2377, doi. 10.3390/cancers14102377
- By:
- Publication type:
- Article
Gorlin syndrome-derived induced pluripotent stem cells are hypersensitive to hedgehog-mediated osteogenic induction.
- Published in:
- PLoS ONE, 2017, v. 12, n. 11, p. 1, doi. 10.1371/journal.pone.0186879
- By:
- Publication type:
- Article
Severe Liver Disorder Following Liver Transplantation in STING-Associated Vasculopathy with Onset in Infancy.
- Published in:
- Journal of Clinical Immunology, 2021, v. 41, n. 5, p. 967, doi. 10.1007/s10875-021-00977-w
- By:
- Publication type:
- Article
CHARGE syndrome modeling using patient-iPSCs reveals defective migration of neural crest cells harboring CHD7 mutations.
- Published in:
- eLife, 2017, p. 1, doi. 10.7554/eLife.21114.001
- By:
- Publication type:
- Article
Improvement of opsoclonus after congenital cataract surgery in an infant.
- Published in:
- Pediatrics International, 2020, v. 62, n. 1, p. 108, doi. 10.1111/ped.14039
- By:
- Publication type:
- Article
Successful cord blood transplantation for a CHARGE syndrome with CHD7 mutation showing DiGeorge sequence including hypoparathyroidism.
- Published in:
- 2010
- By:
- Publication type:
- journal article
A de novo mutation (R279C) in theP63 gene in a patient with EEC syndrome.
- Published in:
- Clinical Genetics, 2001, v. 60, n. 4, p. 314, doi. 10.1034/j.1399-0004.2001.600411.x
- By:
- Publication type:
- Article
Forebrain commissure formation in zebrafish embryo requires the binding of KLC1 to CRMP2.
- Published in:
- Developmental Neurobiology (19328451), 2024, v. 84, n. 3, p. 203, doi. 10.1002/dneu.22948
- By:
- Publication type:
- Article
A case of mature teratoma with a falsely high serum estradiol value measured with an immunoassay.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 6, p. 737, doi. 10.1515/jpem-2015-0442
- By:
- Publication type:
- Article
SOX17 Mutations in Japanese Patients with Pulmonary Arterial Hypertension.
- Published in:
- 2018
- By:
- Publication type:
- case study
Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case report.
- Published in:
- 2022
- By:
- Publication type:
- journal article
An autopsied case report of spastic paraplegia with thin corpus callosum carrying a novel mutation in the SPG11 gene: widespread degeneration with eosinophilic inclusions.
- Published in:
- 2022
- By:
- Publication type:
- journal article
A case of Tessier number 7 cleft with severe micrognathia: prenatal sonographic and three-dimensional helical computed tomographic images.
- Published in:
- Prenatal Diagnosis, 2010, v. 30, n. 2, p. 159, doi. 10.1002/pd.2402
- By:
- Publication type:
- Article
Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome.
- Published in:
- Prenatal Diagnosis, 2006, v. 26, n. 11, p. 1054, doi. 10.1002/pd.1554
- By:
- Publication type:
- Article
Virucidal Effect of the Mesoscopic Structure of CAC-717 on Severe Acute Respiratory Syndrome Coronavirus-2.
- Published in:
- Microorganisms, 2021, v. 9, n. 10, p. 2096, doi. 10.3390/microorganisms9102096
- By:
- Publication type:
- Article
De novo NSF mutations cause early infantile epileptic encephalopathy.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 11, p. 2334, doi. 10.1002/acn3.50917
- By:
- Publication type:
- Article
Establishment of immunity against Epstein‐Barr virus infection in a patient with CHARGE/complete DiGeorge syndrome after peripheral blood lymphocyte transfusion.
- Published in:
- Pediatric Transplantation, 2019, v. 23, n. 4, p. 1, doi. 10.1111/petr.13424
- By:
- Publication type:
- Article
Influence of CYP3A5 and ABCB1 gene polymorphisms on calcineurin inhibitor-related neurotoxicity after hematopoietic stem cell transplantation.
- Published in:
- Clinical Transplantation, 2010, v. 24, n. 6, p. 855, doi. 10.1111/j.1399-0012.2009.01181.x
- By:
- Publication type:
- Article
Genitourinary anomaly in congenital varicella syndrome: case report and review.
- Published in:
- Pediatric Nephrology, 2004, v. 19, n. 5, p. 554, doi. 10.1007/s00467-004-1420-5
- By:
- Publication type:
- Article
Systematic identification of intron retention associated variants from massive publicly available transcriptome sequencing data.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-32887-9
- By:
- Publication type:
- Article
Omega-3 fatty acid epoxides produced by PAF-AH2 in mast cells regulate pulmonary vascular remodeling.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30621-z
- By:
- Publication type:
- Article
BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 10, p. 1325, doi. 10.1038/ejhg.2009.52
- By:
- Publication type:
- Article
Chronic Enteropathy Associated with Solute Carrier Organic Anion Transporter Family, Member 2A1 (SLCO2A1) with Positive Immunohistochemistry for SLCO2A1 Protein.
- Published in:
- Internal Medicine, 2022, v. 61, n. 17, p. 2607, doi. 10.2169/internalmedicine.8939-21
- By:
- Publication type:
- Article
A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles.
- Published in:
- Endocrine Journal, 2020, v. 67, n. 2, p. 211, doi. 10.1507/endocrj.ej19-0226
- By:
- Publication type:
- Article
Acromegaly caused by a somatotroph adenoma in patient with neurofibromatosis type 1.
- Published in:
- Endocrine Journal, 2019, v. 66, n. 10, p. 853, doi. 10.1507/endocrj.ej19-0035
- By:
- Publication type:
- Article
A familial case of periodontal Ehlers–Danlos syndrome lacking skin extensibility and joint hypermobility with a missense mutation in C1R.
- Published in:
- Journal of Dermatology, 2022, v. 49, n. 7, p. 714, doi. 10.1111/1346-8138.16372
- By:
- Publication type:
- Article
Large number of cutaneous neurofibromas beyond age‐appropriate incidence in a patient with a large deletion of <italic>NF1</italic>.
- Published in:
- Journal of Dermatology, 2018, v. 45, n. 3, p. 363, doi. 10.1111/1346-8138.14187
- By:
- Publication type:
- Article
Natural course and characteristics of cutaneous neurofibromas in neurofibromatosis 1.
- Published in:
- Journal of Dermatology, 2018, v. 45, n. 1, p. 53, doi. 10.1111/1346-8138.14025
- By:
- Publication type:
- Article
Clinical severity in Japanese patients with neurofibromatosis 1 based on DNB classification.
- Published in:
- Journal of Dermatology, 2017, v. 44, n. 11, p. 1262, doi. 10.1111/1346-8138.13902
- By:
- Publication type:
- Article
Legius syndrome: A case report.
- Published in:
- Journal of Dermatology, 2017, v. 44, n. 4, p. 459, doi. 10.1111/1346-8138.13687
- By:
- Publication type:
- Article
Case of dominant dystrophic epidermolysis bullosa with amniotic band syndrome.
- Published in:
- Journal of Dermatology, 2017, v. 44, n. 1, p. 102, doi. 10.1111/1346-8138.13449
- By:
- Publication type:
- Article
Endocrine and Radiological Studies in Patients with Molecularly Confirmed CHARGE Syndrome.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 3, p. 920, doi. 10.1210/jc.2007-1419
- By:
- Publication type:
- Article
Micropenis and the 5α-Reductase-2 (SRD5A2) Gene: Mutation and V89L Polymorphism Analysis in 81 Japanese Patients.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 7, p. 3431, doi. 10.1210/jc.2002-021415
- By:
- Publication type:
- Article
PTPN11 (Protein-Tyrosine Phosphatase, NonreceptorType 11) Mutations in Seven Japanese Patients with Noonan Syndrome.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 8, p. 3529, doi. 10.1210/jcem.87.8.8694
- By:
- Publication type:
- Article
Micropenis and the AR Gene: Mutation and CAG Repeat-Length Analysis.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 11, p. 5372, doi. 10.1210/jcem.86.11.7999
- By:
- Publication type:
- Article
Role of a heterotrimeric G-protein, Gi2, in the corticogenesis: possible involvement in periventricular nodular heterotopia and intellectual disability.
- Published in:
- Journal of Neurochemistry, 2017, v. 140, n. 1, p. 82, doi. 10.1111/jnc.13878
- By:
- Publication type:
- Article
A novel missense variant of FGD1 disrupts critical cysteine residues of the FYVE domain in Japanese siblings with Aarskog-Scott syndrome.
- Published in:
- Clinical Pediatric Endocrinology, 2024, v. 33, n. 1, p. 39, doi. 10.1297/cpe.2023-0027
- By:
- Publication type:
- Article