J. Gille

发表

Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome

C. I. Zeeuw, C. Hoogenraad, S. Koekkoek, 2007, Neurobiology of Disease.

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

E. Bongers, L. Hoefsloot, R. Hofstra, 2013, Journal of Medical Genetics.

Familial multiple discoid fibromas: a look-alike of Birt-Hogg-Dubé syndrome not linked to the FLCN locus.

Q. Waisfisz, J. V. van Waesberghe, P. Postmus, 2012, Journal of the American Academy of Dermatology.

CHEK2*1100delC homozygosity is associated with a high breast cancer risk in women

A. W. van der Vaart, A. van der Vaart, H. Meijers-Heijboer, 2011, Journal of Medical Genetics.

TBX 4 mutations ( small patella syndrome ) are associated with childhood-onset pulmonary arterial hypertension

E. Bongers, L. Hoefsloot, R. Hofstra, 2013 .

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

J. Dankert-Roelse, V. Gulmans, H. Janssens, 2019, Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer’s disease

Nick C Fox, W. M. van der Flier, A. Uitterlinden, 2022, Nature Genetics.

Severe complications in a child with achondroplasia and two FGFR3 mutations on the same allele

P. Rump, T. Letteboer, J. Verheij, 2006, American journal of medical genetics. Part A.

The Cowden syndrome: a clinical and genetic study in 21 patients

F. Arwert, A. Eriksson, G. G. Lange, 1986, Clinical genetics.

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Rodney J Scott, John-Paul Plazzer, Finlay Macrae, 2013, Nature Genetics.

Frequency and Spectrum of Cancers in the Peutz-Jeghers Syndrome

S. Gruber, R. Scott, R. Houlston, 2006, Clinical Cancer Research.

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

P. V. van Diest, G. Pals, A. Jongsma, 2001, The Journal of pathology.

Mesomelic dysplasia, Kantaputra type: Clinical report, prenatal diagnosis, no evidence for SHOX deletion/mutation

J. V. van Vugt, L. Wijnaendts, J. Gille, 2004, American journal of medical genetics. Part A.

A Homozygous MSH6 Mutation in a Child with Café-au-Lait Spots, Oligodendroglioma and Rectal Cancer

G. Meijer, K. Claes, F. Menko, 2004, Familial Cancer.

Contribution of CYLN2 and GTF2IRD1 to neurological and cognitive symptoms in Williams Syndrome

M. A. Frens, C. I. De Zeeuw, J. N. van der Geest, 2007, Neurobiology of Disease.

CFTR mutations in Turkish and North African cystic fibrosis patients in Europe: implications for screening.

J. Dankert-Roelse, A. Munck, M. Cornel, 2008, Genetic testing.

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

J. Berkhof, P. V. van Diest, S. Meijer, 2006, International journal of cancer.

Recurrence and variability of germline EPCAM deletions in Lynch syndrome

Julie O. Culver, M. Kloor, P. Hutter, 2011, Human mutation.

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

I. Tomlinson, Lynn Martin, M. Nahorski, 2010, Journal of Medical Genetics.

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Jane E. Carpenter, Jack A. Taylor, W. Chung, 2021, Nature Communications.

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

Q. Waisfisz, P. Postmus, E. Thunnissen, 2012, Familial Cancer.

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

S. Richard, M. Nahorski, E. Maher, 2010, Human mutation.

Variable phenotypes associated with 10q23 microdeletions involving the PTEN and BMPR1A genes

N. de Leeuw, E. Sistermans, E. Peeters, 2008, Clinical genetics.

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

J. Loeber, J. Dankert-Roelse, M. Cornel, 2012, Journal of Inherited Metabolic Disease.

SURFACTANTPROTEINB DEFICIENCYCAUSEDBYANOVELMUTATION INVOLVINGMULTIPLEEXONSOFTHESP-B GENE*

M. Griese, F. Brasch, A. V. Kaam, 2008 .

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

R. Wolthuis, Q. Waisfisz, P. Postmus, 2023, Journal of Human Genetics.

Interstitial deletion in 3q in a patient with blepharophimosis‐ptosis‐epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: Clinical report and review of the literature

J. M. van Hagen, J. B. Bijlsma, A. Nieuwint, 2005, American journal of medical genetics. Part A.

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

H. Shimizu, Y. Nagashima, S. Ichimiya, 2013, Pathology international.

STK11 status and intussusception risk in Peutz-Jeghers syndrome

S. Gruber, R. Scott, R. Houlston, 2006, Journal of Medical Genetics.

Direct-to-consumer carrier screening for cystic fibrosis via a hospital website: a 6-year evaluation

H. Meijers-Heijboer, M. Cornel, L. Henneman, 2018, Journal of Community Genetics.

Surfactant protein B deficiency caused by a novel mutation involving multiple exons of the SP-B gene.

A. V. van Kaam, M. Griese, F. Brasch, 2008, European Journal of Medical Research.

Classification of Fanconi anemia patients by complementation analysis: evidence for a fifth genetic subtype.

M. Buchwald, R. Wegner, H. Joenje, 1995, Blood.

STRAD in Peutz-Jeghers syndrome and sporadic cancers

J. Keller, F. D. de Rooij, A. Baas, 2005, Journal of Clinical Pathology.

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

J. Loeber, J. Dankert-Roelse, E. Dompeling, 2012, Thorax.

Molecular evidence linking primary cancer of the fallopian tube to BRCA1 germline mutations.

P. V. van Diest, I. Jacobs, A. Ryan, 2000, Gynecologic oncology.

Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 families.

P. Postmus, F. Menko, T. V. van Os, 2008, The Journal of investigative dermatology.

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

P. Postmus, E. Thunnissen, F. Menko, 2015, Familial Cancer.

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

I. Tomlinson, Lynn Martin, M. Nahorski, 2010, Journal of Medical Genetics.

Multiple fibroadenomas harbouring carcinoma in situ in a woman with a family history of breast/ovarian cancer

P. V. van Diest, E. van der Wall, F. Rahusen, 2002, Journal of clinical pathology.

Humoral immune responses to MUC1 in women with a BRCA1 or BRCA2 mutation.

P. V. van Diest, M. Blankenstein, S. Meijer, 2007, European journal of cancer.

A case of loss of heterozygosity in the BRCA2 gene of a borderline ovarian tumor: case report and review of literature

P. V. van Diest, J. Dorsman, R. Verheijen, 2006, International Journal of Gynecologic Cancer.