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Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene.
- Published in:
- 1994
- By:
- Publication type:
- journal article
Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood.
- Published in:
- 1999
- By:
- Publication type:
- journal article
Genome-wide linkage scan in Dutch hereditary non-BRCA1/2 breast cancer families identifies 9q21-22 as a putative breast cancer susceptibility locus.
- Published in:
- Genes, Chromosomes & Cancer, 2008, v. 47, n. 11, p. 947, doi. 10.1002/gcc.20597
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- Publication type:
- Article
α-Methyldopa Interference in Urinary Normetanephrine Measurement by LC-MS/MS?
- Published in:
- Journal of Applied Laboratory Medicine, 2016, p. 321, doi. 10.1373/jalm.2016.020925
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- Publication type:
- Article
Paternal origin of FGFR3 mutations in Muenke-type craniosynostosis.
- Published in:
- Human Genetics, 2004, v. 115, n. 3, p. 200, doi. 10.1007/s00439-004-1151-5
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- Publication type:
- Article
Reduced Vitamin K Status as a Potentially Modifiable Risk Factor of Severe Coronavirus Disease 2019.
- Published in:
- Clinical Infectious Diseases, 2021, v. 73, n. 11, p. e4039, doi. 10.1093/cid/ciaa1258
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- Publication type:
- Article
Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 8, p. 995, doi. 10.1038/ejhg.2013.273
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- Publication type:
- Article
HLA-DQ polymorphism and degree of heteroplasmy of the A3243G mitochondrial DNA mutation in maternally inherited diabetes and deafness.
- Published in:
- Diabetic Medicine, 2000, v. 17, n. 12, p. 841, doi. 10.1046/j.1464-5491.2000.00379.x
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- Publication type:
- Article
Peutz-Jeghers syndrome and family planning: the attitude towards prenatal diagnosis and pre-implantation genetic diagnosis.
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- European Journal of Human Genetics, 2012, v. 20, n. 2, p. 236, doi. 10.1038/ejhg.2011.152
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- Publication type:
- Article
Multiplex ligation-depending probe amplification is not suitable for detection of low-grade mosaicism.
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- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 1009, doi. 10.1038/ejhg.2011.60
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- Publication type:
- Article
Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 2, p. 157, doi. 10.1038/ejhg.2010.156
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- Publication type:
- Article
Distinct effects of single amino-acid changes to tuberin on the function of the tuberin-hamartin complex.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 1, p. 59, doi. 10.1038/sj.ejhg.5201276
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- Publication type:
- Article
Analysis of TSC2 stop codon variants found in tuberous sclerosis patients.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 11, p. 823, doi. 10.1038/sj.ejhg.5200728
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- Publication type:
- Article
Characterization of a novel mitochondrial DNA deletion in a patient with a variant of the Pearson marrow–pancreas syndrome.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 3, p. 195, doi. 10.1038/sj.ejhg.5200444
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- Publication type:
- Article
Maternally inherited diabetes and deafness (MIDD): A distinct subtype of diabetes associated with a mitochondrial tRNA<sup>Leu(UUR)</sup> gene point mutation.
- Published in:
- Muscle & Nerve, 1995, v. 18, n. S14, p. S124, doi. 10.1002/mus.880181425
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- Publication type:
- Article
Genome-wide association studies identify four ER negative-specific breast cancer risk loci.
- Published in:
- Nature Genetics, 2013, v. 45, n. 4, p. 392, doi. 10.1038/ng.2561
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- Publication type:
- Article
The growth response to GH treatment is greater in patients with SHOX enhancer deletions compared to SHOX defects.
- Published in:
- European Journal of Endocrinology, 2015, v. 173, n. 5, p. 611, doi. 10.1530/EJE-15-0451
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- Publication type:
- Article
Flavor problems in the application of soy protein materials.
- Published in:
- Journal of the American Oil Chemists' Society (JAOCS), 1979, v. 56, n. 3Part2, p. 289, doi. 10.1007/BF02671475
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- Publication type:
- Article
Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val).
- Published in:
- Breast Cancer Research & Treatment, 2018, v. 172, n. 2, p. 497, doi. 10.1007/s10549-018-4903-y
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- Publication type:
- Article
A unique case of two somatic APC mutations in an early onset cribriform-morular variant of papillary thyroid carcinoma and overview of the literature.
- Published in:
- Familial Cancer, 2020, v. 19, n. 1, p. 15, doi. 10.1007/s10689-019-00146-4
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- Publication type:
- Article
TP53 germline mutation testing in early-onset breast cancer: findings from a nationwide cohort.
- Published in:
- Familial Cancer, 2019, v. 18, n. 2, p. 273, doi. 10.1007/s10689-018-00118-0
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- Publication type:
- Article
Evaluation of current prediction models for Lynch syndrome: updating the PREMM5 model to identify PMS2 mutation carriers.
- Published in:
- Familial Cancer, 2018, v. 17, n. 3, p. 361, doi. 10.1007/s10689-017-0039-1
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- Publication type:
- Article
Uniparental disomy with and without confined placental mosaicism: a model for trisomic zygote rescue.
- Published in:
- Prenatal Diagnosis, 1998, v. 18, n. 7, p. 659, doi. 10.1002/(SICI)1097-0223(199807)18:7<659::AID-PD317>3.0.CO;2-K
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- Publication type:
- Article
Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy.
- Published in:
- Prenatal Diagnosis, 1998, v. 18, n. 1, p. 35, doi. 10.1002/(SICI)1097-0223(199801)18:1<35::AID-PD214>3.0.CO;2-L
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- Publication type:
- Article
Prenatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: a case report of Pallister-Killian syndrome.
- Published in:
- 1995
- By:
- Publication type:
- journal article
Renatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: A case report of pallister-killian syndrome.
- Published in:
- Prenatal Diagnosis, 1995, v. 15, n. 12, p. 1155, doi. 10.1002/pd.1970151212
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- Publication type:
- Article
Genetic risk factors in infertile men with severe oligozoospermia and azoospermia.
- Published in:
- 2002
- By:
- Publication type:
- journal article
The complex relationships between cystic fibrosis and congenital bilateral absence of the vas deferens: clinical, electrophysiological and genetic data.
- Published in:
- 1999
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- Publication type:
- journal article
Determination of the parent of origin in nine cases of prenatally detected chromosome aberrations found after intracytoplasmic sperm injection.
- Published in:
- Human Reproduction, 1997, v. 12, n. 4, p. 682, doi. 10.1093/humrep/12.4.682
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- Publication type:
- Article
Recurrent HOXB13 mutations in the Dutch population do not associate with increased breast cancer risk.
- Published in:
- Scientific Reports, 2016, p. 30026, doi. 10.1038/srep30026
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- Publication type:
- Article
Identification of a large intronic transposal insertion in SLC17A5 causing sialic acid storage disease.
- Published in:
- 2017
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- Publication type:
- journal article
Diabetes-associated mitochondrial DNA mutation A3243G impairs cellular metabolic pathways necessary for beta cell function.
- Published in:
- Diabetologia, 2006, v. 49, n. 8, p. 1816, doi. 10.1007/s00125-006-0301-9
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- Publication type:
- Article
Diagnosis of alpha-1-antitrypsin deficiency in bleeding disorder-related neonatal death.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Inheritance of mutations in the V<sub>2</sub> receptor gene in thirteen families with nephrogenic diabetes insipidus.
- Published in:
- Kidney International, 1994, v. 46, n. 1, p. 170, doi. 10.1038/ki.1994.256
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- Publication type:
- Article
Increased circulating desmosine and age-dependent elastinolysis in idiopathic pulmonary fibrosis.
- Published in:
- 2018
- By:
- Publication type:
- letter
Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Interlaboratory comparison of 25-hydroxyvitamin D assays: Vitamin D Standardization Program (VDSP) Intercomparison Study 2 — Part 1 liquid chromatography – tandem mass spectrometry (LC-MS/MS) assays — impact of 3-epi-25-hydroxyvitamin D<sub>3</sub> on assay performance
- Published in:
- Analytical & Bioanalytical Chemistry, 2022, v. 414, n. 1, p. 333, doi. 10.1007/s00216-021-03576-1
- By:
- Publication type:
- Article
Genetic analysis of von Hippel-Lindau disease.
- Published in:
- 2010
- By:
- Publication type:
- Other
Deletions spanning the neurofibromatosis type 1 gene: Implications for genotype-phenotype correlations in neurofibromatosis type 1?
- Published in:
- Human Mutation, 1997, v. 9, n. 5, p. 458, doi. 10.1002/(SICI)1098-1004(1997)9:5<458::AID-HUMU13>3.0.CO;2-1
- By:
- Publication type:
- Article
Simultaneous A8344G heteroplasmy and mitochondrial DNA copy number quantification in Myoclonus Epilepsy and Ragged-Red Fibers (MERRF) syndrome by a multiplex Molecular Beacon based real-time fluorescence PCR.
- Published in:
- Nucleic Acids Research, 2001, v. 29, n. 3, p. e13, doi. 10.1093/nar/29.3.e13
- By:
- Publication type:
- Article
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines.
- Published in:
- Cancers, 2019, v. 11, n. 8, p. 1114, doi. 10.3390/cancers11081114
- By:
- Publication type:
- Article
Frequent loss of the AXIN1 locus but absence of AXIN1 gene mutations in adenocarcinomas of the gastro-oesophageal junction with nuclear ß-catenin expression.
- Published in:
- British Journal of Cancer, 2004, v. 90, n. 4, p. 892, doi. 10.1038/sj.bjc.6601589
- By:
- Publication type:
- Article
Evidence for an ependymoma tumour suppressor gene in chromosome region 22pter–22q11.2.
- Published in:
- British Journal of Cancer, 1999, v. 81, n. 7, p. 1150, doi. 10.1038/sj.bjc.6690822
- By:
- Publication type:
- Article
Fast Separation of 25-Hydroxyvitamin D<sub>3</sub> from 3-Epi-25-Hydroxyvitamin D<sub>3</sub> in Human Serum by Liquid Chromatography-Tandem Mass Spectrometry: Variable Prevalence of 3-Epi-25-Hydroxyvitamin D<sub>3</sub> in Infants, Children, and Adults.
- Published in:
- Clinical Chemistry, 2011, v. 57, n. 11, p. 1618, doi. 10.1373/clinchem.2011.170282
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- Publication type:
- Article
Mucositis-associated bloodstream infections in adult haematology patients with fever during neutropenia: risk factors and the impact of mucositis severity.
- Published in:
- Supportive Care in Cancer, 2024, v. 32, n. 9, p. 1, doi. 10.1007/s00520-024-08776-w
- By:
- Publication type:
- Article
Vitamin K2 Supplementation in Hospitalised COVID-19 Patients: A Randomised Controlled Trial.
- Published in:
- Journal of Clinical Medicine, 2024, v. 13, n. 12, p. 3476, doi. 10.3390/jcm13123476
- By:
- Publication type:
- Article
Increased Elastin Degradation in Pseudoxanthoma Elasticum Is Associated with Peripheral Arterial Disease Independent of Calcification.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 9, p. 2771, doi. 10.3390/jcm9092771
- By:
- Publication type:
- Article
Low Vitamin K Status Is Associated with Increased Elastin Degradation in Chronic Obstructive Pulmonary Disease.
- Published in:
- Journal of Clinical Medicine, 2019, v. 8, n. 8, p. 1116, doi. 10.3390/jcm8081116
- By:
- Publication type:
- Article
Validation study of Axis-Shield carbohydrate-deficient transferrin (CDT) on ARCHITECT<sup>®</sup> chemistry analyzer.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2007, v. 45, n. 11, p. 1555, doi. 10.1515/CCLM.2007.319
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- Publication type:
- Article