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Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion

Acta neuropathologica, 2024-06, Vol.147 (1), p.64, Article 64

2024

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Dysplastic changes in prophylactically removed Fallopian tubes of women predisposed to developing ovarian cancer

The Journal of pathology, 2001-11, Vol.195 (4), p.451-456

2001

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new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene

Human mutation, 2010, Vol.31 (1), p.E1043-E1051

2010

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Improving test properties for neonatal cystic fibrosis screening in the Netherlands before the nationwide start by May 1st 2011

Journal of inherited metabolic disease, 2012-07, Vol.35 (4), p.635-640

2012

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Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study

Thorax, 2012-04, Vol.67 (4), p.289-295

2012

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Investigation of the Birt–Hogg–Dubé tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer

Journal of medical genetics, 2010-06, Vol.47 (6), p.385-390

2010

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CHEK21100delC homozygosity is associated with a high breast cancer risk in women

Journal of medical genetics, 2011-12, Vol.48 (12), p.860-863

2011

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Possible hints and pitfalls in diagnosing Peutz-Jeghers syndrome

Journal of Pediatric Endocrinology and Metabolism, 2018-12, Vol.31 (12), p.1381-1386

2018

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Birt-Hogg-Dubé Syndrome: Clinical and Genetic Studies of 20 Families

Journal of investigative dermatology, 2008-01, Vol.128 (1), p.45-49

2008

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Low prevalence of (pre) malignant lesions in the breast and high prevalence in the ovary and Fallopian tube in women at hereditary high risk of breast and ovarian cancer

International journal of cancer, 2006-09, Vol.119 (6), p.1412-1418

2006

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Non‐invasive prenatal detection of achondroplasia in size‐fractionated cell‐free DNA by MALDI‐TOF MS assay

Prenatal diagnosis, 2007-01, Vol.27 (1), p.11-17

2007

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Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney

Kidney international, 2015-12, Vol.88 (6), p.1402-1410

2015

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TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

Journal of medical genetics, 2013-08, Vol.50 (8), p.500-506

2013

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Diagnosis of Fanconi Anemia: Mutation Analysis by Next-Generation Sequencing

Anemia, 2012-01, Vol.2012 (2012), p.13-19

2012

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Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing

Anemia, 2012-01, Vol.2012 (2012), p.206-218

2012

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Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis?

Familial cancer, 2016-04, Vol.15 (2), p.297-300

2016

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Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma

Familial cancer, 2012-12, Vol.11 (4), p.661-665

2012

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Prevalence of medulloblastoma in basal cell nevus syndrome patients with a PTCH1 mutation

Neuro-oncology (Charlottesville, Va.), 2021-06, Vol.23 (6), p.1035-1036

2021

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Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands

Journal of cystic fibrosis, 2019-01, Vol.18 (1), p.54-63

2019

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A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation

Familial cancer, 2013-09, Vol.12 (3), p.373-379

2013

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Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene

Journal of human genetics, 2023-04, Vol.68 (4), p.273-279

2023

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Multifocal and microscopic chromophobe renal cell carcinomatous lesions associated with ‘capsulomas’ without FCLN gene abnormality

Pathology international, 2013-10, Vol.63 (10), p.510-515

2013

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Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study

The lancet oncology, 2011, Vol.12 (1), p.49-55

2011

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Germline mutation in the STK11 gene in a girl with an ovarian Sertoli cell tumour

European journal of pediatrics, 2007-10, Vol.166 (10), p.1083-1085

2007

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Microglial phagolysosome dysfunction and altered neural communication amplify phenotypic severity in Prader-Willi Syndrome with larger deletion

Dysplastic changes in prophylactically removed Fallopian tubes of women predisposed to developing ovarian cancer

new locus-specific database (LSDB) for mutations in the folliculin (FLCN) gene

Improving test properties for neonatal cystic fibrosis screening in the Netherlands before the nationwide start by May 1st 2011

Novel strategies in newborn screening for cystic fibrosis: a prospective controlled study

Investigation of the Birt–Hogg–Dubé tumour suppressor gene (FLCN) in familial and sporadic colorectal cancer

CHEK21100delC homozygosity is associated with a high breast cancer risk in women

Possible hints and pitfalls in diagnosing Peutz-Jeghers syndrome

Birt-Hogg-Dubé Syndrome: Clinical and Genetic Studies of 20 Families

Low prevalence of (pre) malignant lesions in the breast and high prevalence in the ovary and Fallopian tube in women at hereditary high risk of breast and ovarian cancer

Non‐invasive prenatal detection of achondroplasia in size‐fractionated cell‐free DNA by MALDI‐TOF MS assay

Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney

TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension

Diagnosis of Fanconi Anemia: Mutation Analysis by Next-Generation Sequencing

Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing

Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis?

Heterozygote FANCD2 mutations associated with childhood T Cell ALL and testicular seminoma

Recurrence and variability of germline EPCAM deletions in Lynch syndrome

Prevalence of medulloblastoma in basal cell nevus syndrome patients with a PTCH1 mutation

Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands

A de novo FLCN mutation in a patient with spontaneous pneumothorax and renal cancer; a clinical and molecular evaluation

Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 gene

Multifocal and microscopic chromophobe renal cell carcinomatous lesions associated with ‘capsulomas’ without FCLN gene abnormality

Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study

Germline mutation in the STK11 gene in a girl with an ovarian Sertoli cell tumour

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