Jeroen Schoots

发表

Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

J. Al-Aama, J. Opitz, W. Reardon, 2012, European Journal of Human Genetics.

Meier-Gorlin syndrome

E. Bongers, H. Brunner, N. Knoers, 2015, Orphanet Journal of Rare Diseases.

New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis.

L. Hoefsloot, J. Wetzels, N. Knoers, 2013, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

A. Hoischen, E. Bongers, H. Brunner, 2013, European Journal of Human Genetics.

Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes

R. Pfundt, M. Fichera, C. Romano, 2014, American journal of medical genetics. Part A.

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome

R. Pfundt, L. Hoefsloot, N. Knoers, 2011, European Journal of Human Genetics.

A Novel Hypokalemic-Alkalotic Salt-Losing Tubulopathy in Patients with CLDN10 Mutations.

E. Bongers, J. Wetzels, S. Milatz, 2017, Journal of the American Society of Nephrology : JASN.

The phenotype of floating-harbor syndrome

A. Hoischen, L. S. Lucas, J. Allanson, 2016 .

Mutations in the human TBX4 gene cause small patella syndrome.

E. Bongers, L. Hoefsloot, A. van Kampen, 2004, American journal of human genetics.

Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome

E. Speel, C. Stumpel, E. Kamsteeg, 2016, Fetal and pediatric pathology.

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.

J. Lupski, D. Muzny, S. Jhangiani, 2015, American journal of human genetics.

Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9)

C. Cremers, H. Kremer, L. Hoefsloot, 2006, American Journal of Medical Genetics. Part A.

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects

B. V. van Bon, L. Vissers, B. D. de Vries, 2012, Journal of Medical Genetics.

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

A. Hoischen, B. D. de Vries, L. S. Lucas, 2013, Orphanet Journal of Rare Diseases.

Mutation update on the CHD7 gene involved in CHARGE syndrome

M. Swertz, L. Hoefsloot, R. Hofstra, 2012, Human mutation.

Mutations in the Pre-Replication Complex cause Meier-Gorlin syndrome

Nine V.A.M. Knoers, Pierre Sarda, Jumana Y. Al-Aama, 2011, Nature Genetics.

A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome

L. Hoefsloot, R. Hofstra, C. V. van Ravenswaaij-Arts, 2012, Human mutation.

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

Mahshid S. Azamian, Magalie S Leduc, J. Rosenfeld, 2015, American journal of human genetics.

Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability

R. Pfundt, J. Verhoeven, H. Brunner, 2018, Epilepsia.

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

J. van Reeuwijk, L. Hoefsloot, H. van Bokhoven, 2010, Brain : a journal of neurology.

Kidney Disease Associated With Mono-allelic COL4A3 and COL4A4 Variants: A Case Series of 17 Families

E. Bongers, J. Deegens, J. Wetzels, 2023, Kidney medicine.

Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

J. Al-Aama, J. Opitz, W. Reardon, 2012, American journal of medical genetics. Part A.

Genotype–phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy

J. Cruysberg, E. Bongers, L. Hoefsloot, 2005, European Journal of Human Genetics.

Title The phenotype of Floating-Harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP Permalink

A. Hoischen, L. S. Lucas, E. Bongers, 2013 .

Edinburgh Research Explorer Meier-Gorlin syndrome

E. Bongers, H. Brunner, N. Knoers, 2018 .

A Novel Hypokalemic-Alkalotic Salt-Losing Tubulopathy in Patients with CLDN10 Mutations.

E. Bongers, J. Wetzels, S. Milatz, 2017, Journal of the American Society of Nephrology : JASN.