Found: 49
Select item for more details and to access through your institution.
An unusual diagnosis of alpha‐mannosidosis with ocular anomalies: Behind the scenes of a hidden copy number variation.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 5, p. 1, doi. 10.1002/ajmg.a.63532
- By:
- Publication type:
- Article
Intragenic deletion of the WDR45 gene in a male with encephalopathy, severe psychomotor disability, and epilepsy.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1444, doi. 10.1002/ajmg.a.38180
- By:
- Publication type:
- Article
Déficit en myoadénylate désaminase : une cause fréquente de douleurs musculaires À propos d'un cas dépisté par épreuve d'effort.
- Published in:
- Annales de Biologie Clinique, 2017, v. 75, n. 4, p. 445, doi. 10.1684/abc.2017.1253
- By:
- Publication type:
- Article
A new point mutation in EPOR inducing a short deletion in congenital erythrocytosis.
- Published in:
- British Journal of Haematology, 2016, v. 172, n. 3, p. 475, doi. 10.1111/bjh.13511
- By:
- Publication type:
- Article
Next-generation sequencing is a credible strategy for blood group genotyping.
- Published in:
- British Journal of Haematology, 2014, v. 167, n. 4, p. 554, doi. 10.1111/bjh.13084
- By:
- Publication type:
- Article
Hereditary pancreatitis caused by triplication of the trypsinogen locus.
- Published in:
- Nature Genetics, 2006, v. 38, n. 12, p. 1372, doi. 10.1038/ng1904
- By:
- Publication type:
- Article
A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis.
- Published in:
- Nature Genetics, 2006, v. 38, n. 6, p. 668, doi. 10.1038/ng1797
- By:
- Publication type:
- Article
Insights into RHCE Molecular Analysis in Samples with Partial D Variants: the Experience of Western France.
- Published in:
- Transfusion Medicine & Hemotherapy, 2015, v. 42, n. 6, p. 372, doi. 10.1159/000382086
- By:
- Publication type:
- Article
Implementation of a molecular tumor board at a regional level to improve access to targeted therapy.
- Published in:
- International Journal of Clinical Oncology, 2020, v. 25, n. 7, p. 1234, doi. 10.1007/s10147-020-01661-6
- By:
- Publication type:
- Article
Diagnostic Algorithm for Glycogenoses and Myoadenylate Deaminase Deficiency Based on Exercise Testing Parameters: A Prospective Study.
- Published in:
- PLoS ONE, 2015, v. 10, n. 7, p. 1, doi. 10.1371/journal.pone.0132972
- By:
- Publication type:
- Article
Evidence for the High Importance of Co-Morbid Factors in <i>HFE</i> C282Y/H63D Patients Cared by Phlebotomies: Results from an Observational Prospective Study.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0081128
- By:
- Publication type:
- Article
A Missense Mutation in the Alpha-Actinin 1 Gene (<i>ACTN1</i>) Is the Cause of Autosomal Dominant Macrothrombocytopenia in a Large French Family.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074728
- By:
- Publication type:
- Article
Characterization of GJB2 cis-regulatory elements in the DFNB1 locus.
- Published in:
- Human Genetics, 2019, v. 138, n. 11/12, p. 1275, doi. 10.1007/s00439-019-02068-8
- By:
- Publication type:
- Article
Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation.
- Published in:
- Human Genetics, 2008, v. 123, n. 5, p. 521, doi. 10.1007/s00439-008-0508-6
- By:
- Publication type:
- Article
Association of rare chymotrypsinogen C ( CTRC) gene variations in patients with idiopathic chronic pancreatitis.
- Published in:
- Human Genetics, 2008, v. 123, n. 1, p. 83, doi. 10.1007/s00439-007-0459-3
- By:
- Publication type:
- Article
Functional analysis of pancreatitis-associated missense mutations in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 9, p. 936, doi. 10.1038/sj.ejhg.5201873
- By:
- Publication type:
- Article
Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 11, p. 1204, doi. 10.1038/sj.ejhg.5201684
- By:
- Publication type:
- Article
'Gain of function' PRSS1 mutations are rare in ICP.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 2, p. 108, doi. 10.1038/sj.ejhg.5200945
- By:
- Publication type:
- Article
Determination of the relative contribution of three genes--the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene--to the etiology of idiopathic chronic...
- Published in:
- European Journal of Human Genetics, 2002, v. 10, n. 2, p. 100
- By:
- Publication type:
- Article
The ratio of maximal handgrip force and maximal cycloergometry power as a diagnostic tool to screen for metabolic myopathies.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-65797-1
- By:
- Publication type:
- Article
Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography.
- Published in:
- BMC Genetics, 2001, v. 2, p. 19, doi. 10.1186/1471-2156-2-19
- By:
- Publication type:
- Article
A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 3, p. 377, doi. 10.1111/cge.14270
- By:
- Publication type:
- Article
NRAS<sup>Q61R</sup>, BRAF<sup>V600E</sup> immunohistochemistry: a concomitant tool for mutation screening in melanomas.
- Published in:
- Diagnostic Pathology, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13000-015-0359-0
- By:
- Publication type:
- Article
NRAS<sup>Q61R</sup>, BRAF<sup>V600E</sup> immunohistochemistry: a concomitant tool for mutation screening in melanomas
- Published in:
- Diagnostic Pathology, 2015, v. 10, n. 1, p. 121, doi. 10.1186/s13000-015-0359-0
- By:
- Publication type:
- Article
Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.
- Published in:
- Human Genomics, 2021, v. 15, n. 1, p. 1, doi. 10.1186/s40246-021-00342-3
- By:
- Publication type:
- Article
Evolution of Trypsinogen Activation Peptides.
- Published in:
- Molecular Biology & Evolution, 2003, v. 20, n. 11, p. 1767, doi. 10.1093/molbev/msg183
- By:
- Publication type:
- Article
The novel c.634+4A>G splicing variant in RHCE results in weak C and e antigen expression in a pregnant woman originated from Japan.
- Published in:
- Transfusion, 2022, v. 62, n. 4, p. 758, doi. 10.1111/trf.16811
- By:
- Publication type:
- Article
A Peruvian patient carrying the novel RHCE*cE(c.382G > C) missense allele in the RH blood group system.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Pathogenic and likely pathogenic variants in at least five genes account for approximately 3% of mild isolated nonsyndromic thrombocytopenia.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Molecular basis of weak D expression in the Indian population and report of a novel, predominant variant RHD allele.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Identification of novel variant A alleles within the ABO gene.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Extensive functional analyses of RHD splice site variants: Insights into the potential role of splicing in the physiology of Rh.
- Published in:
- Transfusion, 2015, v. 55, n. 6pt2, p. 1432, doi. 10.1111/trf.13083
- By:
- Publication type:
- Article
A convenient qualitative and quantitative method to investigate RHD-RHCE hybrid genes.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
A convenient qualitative and quantitative method to investigate RHD- RHCE hybrid genes.
- Published in:
- Transfusion, 2013, v. 53, n. 11pt2, p. 2974, doi. 10.1111/trf.12179
- By:
- Publication type:
- Article
Establishment of a medium-throughput approach for the genotyping of RHD variants and report of nine novel rare alleles.
- Published in:
- Transfusion, 2013, v. 53, n. 8, p. 1821, doi. 10.1111/trf.12009
- By:
- Publication type:
- Article
Small deletions within the RHD coding sequence: a report of two novel mutational events and a survey of the underlying pathophysiologic mechanisms.
- Published in:
- Transfusion, 2013, v. 53, n. 1, p. 206, doi. 10.1111/j.1537-2995.2012.03713.x
- By:
- Publication type:
- Article
Weak D caused by a founder deletion in the RHD gene.
- Published in:
- Transfusion, 2012, v. 52, n. 11, p. 2348, doi. 10.1111/j.1537-2995.2012.03606.x
- By:
- Publication type:
- Article
Variant screening of the RHD gene in a large cohort of subjects with D phenotype ambiguity: report of 17 novel rare alleles.
- Published in:
- Transfusion, 2012, v. 52, n. 4, p. 759, doi. 10.1111/j.1537-2995.2011.03350.x
- By:
- Publication type:
- Article
Identification of 12 novel RHD alleles in western France by denaturing high-performance liquid chromatography analysis.
- Published in:
- Transfusion, 2007, v. 47, n. 5, p. 858, doi. 10.1111/j.1537-2995.2005.00631.x-i1
- By:
- Publication type:
- Article
Sequential analysis of 18 genes in polycythemia vera and essential thrombocythemia reveals an association between mutational status and clinical outcome.
- Published in:
- Genes, Chromosomes & Cancer, 2017, v. 56, n. 5, p. 354, doi. 10.1002/gcc.22437
- By:
- Publication type:
- Article
Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis.
- Published in:
- Human Mutation, 2007, v. 28, n. 5, p. 469, doi. 10.1002/humu.20471
- By:
- Publication type:
- Article
Elucidation of the complex structure and origin of the human trypsinogen locus triplication.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3605, doi. 10.1093/hmg/ddp308
- By:
- Publication type:
- Article
Microsatellite Instability and Aberrant Pre-mRNA Splicing: How Intimate Is It?
- Published in:
- Genes, 2023, v. 14, n. 2, p. 311, doi. 10.3390/genes14020311
- By:
- Publication type:
- Article
Whole-Genome Sequencing Improves the Diagnosis of DFNB1 Monoallelic Patients.
- Published in:
- Genes, 2021, v. 12, n. 8, p. 1267, doi. 10.3390/genes12081267
- By:
- Publication type:
- Article
Genomic rearrangements in the CFTR gene: Extensive allelic heterogeneity and diverse mutational mechanisms.
- Published in:
- Human Mutation, 2004, v. 23, n. 4, p. 343, doi. 10.1002/humu.20009
- By:
- Publication type:
- Article
Interaction between trypsinogen isoforms in genetically determined pancreatitis: Mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2) (Communicated by Mireille Claustres).
- Published in:
- Human Mutation, 2004, v. 23, n. 1, p. 22, doi. 10.1002/humu.10285
- By:
- Publication type:
- Article
Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and Ireland (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #629 (2003) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/629.pdf)
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 105, doi. 10.1002/humu.9158
- By:
- Publication type:
- Article
Comparison of the CFTR mutation spectrum in three cohorts of patients of Celtic origin from Brittany (France) and IrelandCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #629 (2003) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/629.pdf
- Published in:
- Human Mutation, 2003, v. 22, n. 1, p. 105, doi. 10.1002/humu.9158
- By:
- Publication type:
- Article
Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency.
- Published in:
- PLoS ONE, 2017, v. 12, n. 11, p. 1, doi. 10.1371/journal.pone.0187266
- By:
- Publication type:
- Article