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A novel germline PAX5 single exon deletion in a pediatric patient with precursor B-cell leukemia

Leukemia, 2023-08, Vol.37 (9), p.1908-1911

2023

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Childhood neuroendocrine tumours: a descriptive study revealing clues for genetic predisposition

British journal of cancer, 2017-01, Vol.116 (2), p.163-168

2017

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Tumor suppressor IKZF1 mediates glucocorticoid resistance in B-cell precursor acute lymphoblastic leukemia

Leukemia, 2016-07, Vol.30 (7), p.1599-1603

2016

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IKZF1 deletions predict relapse in uniformly treated pediatric precursor B-ALL

Leukemia, 2010-07, Vol.24 (7), p.1258-1264

2010

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Germline activating TYK2 mutations in pediatric patients with two primary acute lymphoblastic leukemia occurrences

Leukemia, 2017-04, Vol.31 (4), p.821-828

2017

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Integrated use of minimal residual disease classification and IKZF1 alteration status accurately predicts 79% of relapses in pediatric acute lymphoblastic leukemia

Leukemia, 2011-02, Vol.25 (2), p.254-258

2011

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Constitutional 2p16.3 deletion including MSH6 and FBXO11 in a boy with developmental delay and diffuse large B-cell lymphoma

Familial cancer, 2021-10, Vol.20 (4), p.349-354

2021

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Independent development of lymphoid and histiocytic malignancies from a shared early precursor

Leukemia, 2016-04, Vol.30 (4), p.955-958

2016

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Highly sensitive MRD tests for ALL based on the IKZF1 Δ3–6 microdeletion

Leukemia, 2012-06, Vol.26 (6), p.1414-1416

2012

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1394 COPY NUMBER ASSAY IN POLYCYSTIC LIVER DISEASE BY MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION

Journal of hepatology, 2013-04, Vol.58, p.S560-S560

2013

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438 SECONDARY AND TERTIARY STRUCTURE MODELING REVEALS EFFECTS OF NOVEL MUTATIONS IN POLYCYSTIC LIVER DISEASE GENES PRKCSH AND SEC63

Journal of hepatology, 2009, Vol.50, p.S164-S165

2009

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TET2 mutations in childhood leukemia

Leukemia, 2011-01, Vol.25 (1), p.189-192

2011

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Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63

Clinical genetics, 2010-07, Vol.78 (1), p.47-56

2010

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Response to Palmirotta et al.: The frequency of the PRKCSH GAG trinucleotide repeat in PCLD patients

Clinical genetics, 2011-04, Vol.79 (4), p.399-400

2011

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46 IN AUTOSOMAL DOMINANT POLYCYSTIC LIVER DISEASE (PCLD) CYSTS DEVELOP THROUGH A CELLULAR RECESSIVE MECHANISM INVOLVING LOSS OF HETEROZYGOSITY AND SOMATIC MUTATIONS

Journal of hepatology, 2010, Vol.52, p.S20-S20

2010

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890 CA19-9 IS A NOVEL BIOMARKER FOR POLYCYSTIC LIVER DISEASE

Journal of hepatology, 2008, Vol.48, p.S334-S334

2008

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On the monophyly of chromalveolates using a six-protein phylogeny of eukaryotes

International journal of systematic and evolutionary microbiology, 2005-01, Vol.55 (1), p.487-496

2005

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Comment on: How do we interpret an elevated carbohydrate antigen 19-9 level in asymptomatic subjects?

Digestive and liver disease, 2010-03, Vol.42 (3), p.234-235

2010

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Value of molecular analysis of Wilson's disease in the absence of tissue copper deposits : a novel ATP7B mutation in an adult patient

Netherlands journal of medicine, 2008-09, Vol.66 (8), p.348-350

2008

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Mammaglobin Is Associated With Low-Grade, Steroid Receptor-Positive Breast Tumors From Postmenopausal Patients, and Has Independent Prognostic Value for Relapse-Free Survival Time

Journal of clinical oncology, 2004-02, Vol.22 (4), p.691-698

2004

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Highly sensitive MRD tests for ALL based on the IKZF1 [Delta]3-6 microdeletion

Leukemia, 2012-06, Vol.26 (6), p.1414

2012

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Polycystic liver disease is associated with PRKCSH and SEC63 mutations

European journal of gastroenterology & hepatology, 2006-01, Vol.18 (1), p.A17

2006

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A novel germline PAX5 single exon deletion in a pediatric patient with precursor B-cell leukemia

Leukemia, 2023, Vol.37 (9), p.1908-1911

2023

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Preliminary map of the south western Kalahari Desert

Koedoe, 1977-08, Vol.20 (1), p.163-167

1977

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Circulating biomarkers for predicting cardiovascular disease risk; a systematic review and comprehensive overview of meta-analyses

PloS one, 2013-04, Vol.8 (4), p.e62080-e62080

2013

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A novel germline PAX5 single exon deletion in a pediatric patient with precursor B-cell leukemia

Childhood neuroendocrine tumours: a descriptive study revealing clues for genetic predisposition

Tumor suppressor IKZF1 mediates glucocorticoid resistance in B-cell precursor acute lymphoblastic leukemia

IKZF1 deletions predict relapse in uniformly treated pediatric precursor B-ALL

Germline activating TYK2 mutations in pediatric patients with two primary acute lymphoblastic leukemia occurrences

Integrated use of minimal residual disease classification and IKZF1 alteration status accurately predicts 79% of relapses in pediatric acute lymphoblastic leukemia

Constitutional 2p16.3 deletion including MSH6 and FBXO11 in a boy with developmental delay and diffuse large B-cell lymphoma

Independent development of lymphoid and histiocytic malignancies from a shared early precursor

Highly sensitive MRD tests for ALL based on the IKZF1 Δ3–6 microdeletion

1394 COPY NUMBER ASSAY IN POLYCYSTIC LIVER DISEASE BY MULTIPLEX LIGATION-DEPENDENT PROBE AMPLIFICATION

438 SECONDARY AND TERTIARY STRUCTURE MODELING REVEALS EFFECTS OF NOVEL MUTATIONS IN POLYCYSTIC LIVER DISEASE GENES PRKCSH AND SEC63

TET2 mutations in childhood leukemia

Secondary and tertiary structure modeling reveals effects of novel mutations in polycystic liver disease genes PRKCSH and SEC63

Response to Palmirotta et al.: The frequency of the PRKCSH GAG trinucleotide repeat in PCLD patients

46 IN AUTOSOMAL DOMINANT POLYCYSTIC LIVER DISEASE (PCLD) CYSTS DEVELOP THROUGH A CELLULAR RECESSIVE MECHANISM INVOLVING LOSS OF HETEROZYGOSITY AND SOMATIC MUTATIONS

890 CA19-9 IS A NOVEL BIOMARKER FOR POLYCYSTIC LIVER DISEASE

On the monophyly of chromalveolates using a six-protein phylogeny of eukaryotes

Comment on: How do we interpret an elevated carbohydrate antigen 19-9 level in asymptomatic subjects?

Value of molecular analysis of Wilson's disease in the absence of tissue copper deposits : a novel ATP7B mutation in an adult patient

Mammaglobin Is Associated With Low-Grade, Steroid Receptor-Positive Breast Tumors From Postmenopausal Patients, and Has Independent Prognostic Value for Relapse-Free Survival Time

Highly sensitive MRD tests for ALL based on the IKZF1 [Delta]3-6 microdeletion

Polycystic liver disease is associated with PRKCSH and SEC63 mutations

A novel germline PAX5 single exon deletion in a pediatric patient with precursor B-cell leukemia

Preliminary map of the south western Kalahari Desert

Circulating biomarkers for predicting cardiovascular disease risk; a systematic review and comprehensive overview of meta-analyses

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