J. K. Ploos van Amstel

发表

Influence of the type of F8 gene mutation on inhibitor development in a single centre cohort of severe haemophilia A patients

J. G. van der Bom, H. M. van den Berg, S. Gouw, 2011, Haemophilia : the official journal of the World Federation of Hemophilia.

Variability in dentofacial phenotypes in four families with WNT10A mutations

A. Kuijpers-Jagtman, T. Kleefstra, C. Carels, 2014, European Journal of Human Genetics.

H714Q mutation in Wilson disease is associated with late, neurological presentation.

J. Juyn, R. Houwen, J. K. Ploos van Amstel, 1995, Journal of medical genetics.

SMAD4 mutations found in unselected HHT patients

R. Pyeritz, A. Ganguly, D. Marchuk, 2006, Journal of Medical Genetics.

Isolated and contiguous glycerol kinase gene disorders: A review

M. Durán, B. Poll-The, F. Beemer, 2000, Journal of Inherited Metabolic Disease.

Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.

R. Wevers, R. Salvayre, T. Levade, 1996, Journal of medical genetics.

Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysis.

J. Giltay, B. Poll-The, J. Smeitink, 1996, Human heredity.

Six novel mutations in the alpha-galactosidase A gene in families with Fabry disease.

B. Hamel, R. Wevers, J. K. Ploos van Amstel, 1994, Human molecular genetics.

The putative factor IX gene promoter in hemophilia B Leyden.

P. Reitsma, R. Bertina, J. K. Ploos van Amstel, 1988, Blood.

Different phenotypic expression in relatives with fabry disease caused by a W226X mutation.

D. Lindhout, B. Poll-The, M. Ausems, 1999, American journal of medical genetics.

Spectrum of mutations in the fumarylacetoacetate hydrolase gene of tyrosinemia type 1 patients in northwestern Europe and Mediterranean countries

B. Poll-The, J. K. Ploos van Amstel, R. Berger, 1998, Human mutation.

Earliest gestational age for fetal sexing in cell‐free maternal plasma

R. B. van der Luijt, C. E. van der Schoot, J. K. Ploos van Amstel, 2003, Prenatal diagnosis.

Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia

D. Lindhout, R. Snijder, J. Mager, 2005, Journal of Medical Genetics.

Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.

R. Sinke, M. Durán, B. Poll-The, 1998, Journal of medical genetics.

Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.

E. Cuppen, M. van der Burg, B. van der Zwaag, 2014, The Journal of allergy and clinical immunology.

Economic evaluations of exome and genome sequencing in pediatric genetics: considerations towards a consensus strategy

L. Vissers, J. K. Ploos van Amstel, L. Henneman, 2021, Journal of medical economics.

Genetic variants of Adam17 differentially regulate TGFβ signaling to modify vascular pathology in mice and humans

Marie M. Lee, R. Coffey, R. Akhurst, 2014, Proceedings of the National Academy of Sciences.

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP–HHT syndrome

Robert I. White, W. Reardon, B. Bernhardt, 2010, American journal of medical genetics. Part A.

SMAD4 gene mutation increases the risk of aortic dilation in patients with hereditary haemorrhagic telangiectasia.

B. Mulder, V. Vorselaars, M. Post, 2017, International journal of cardiology.

Vascular defects associated with hereditary hemorrhagic telangiectasia revealed in patient-derived isogenic iPSCs in 3D vessels on chip

Francijna E. van den Hil, C. Mummery, R. Snijder, 2022, Stem cell reports.

Hereditary hemorrhagic telangiectasia: ENG and ALK-1 mutations in Dutch patients

D. Lindhout, R. Snijder, J. Mager, 2004, Human Genetics.

Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18

R. Hochstenbach, J. V. van Harssel, T. Brouwer, 2015, Case reports in genetics.

Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation‐dependent probe amplification (MLPA)

R. Hochstenbach, R. Sinke, R. B. van der Luijt, 2005, Prenatal diagnosis.

Gene Mosaicism Screening Using Single Molecule Molecular Inversion Probes in Routine Diagnostics for Systemic Autoinflammatory Diseases.

M. Swertz, M. Koudijs, J. K. Ploos van Amstel, 2019, The Journal of molecular diagnostics : JMD.

The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A.

J. K. Ploos van Amstel, O. Udalova, E. Beyer, 1999, Clinica chimica acta; international journal of clinical chemistry.

Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands

V. Verhoeven, A. B. Mink van der Molen, J. K. Ploos van Amstel, 2023, Molecular Syndromology.

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands

L. Vissers, R. Pfundt, R. V. van Lingen, 2023, European Journal of Pediatrics.

The clinical and genetic features of hereditary haemorrhagic telangiectasia (HHT) in central South Africa—three novel pathogenic variants

J. Mager, J. K. Ploos van Amstel, R. Seedat, 2020, Molecular Biology Reports.

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP–HHT syndrome

W. Reardon, B. Bernhardt, R. Pyeritz, 2010, American journal of medical genetics. Part A.