A. Lachmeijer

发表

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis

E. Bongers, G. Pals, H. Meijers-Heijboer, 2009, European Journal of Human Genetics.

Refining the phenotype of α‐1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly

H. Omran, G. Schuierer, K. Kutsche, 2008, Clinical genetics.

Clinical and mutational spectrum of Mowat-Wilson syndrome.

I. Krantz, K. Devriendt, H. Firth, 2005, European journal of medical genetics.

Attitudes of pregnant women and male partners towards non-invasive prenatal testing and widening the scope of prenatal screening

D. Timmermans, W. Dondorp, L. Henneman, 2014, European Journal of Human Genetics.

BBS 10 mutations are frequent in “ Meckel ” type cystic kidneys

Marie-Pierre, Sophie, R. Bouvier, 2018 .

BBS10 mutations are common in ‘Meckel’-type cystic kidneys

R. Salomon, M. Gubler, R. Bouvier, 2010, Journal of Medical Genetics.

Concordance for pre‐eclampsia in monozygous twins

J. Aarnoudse, G. Dekker, L. P. Kate, 1998, British journal of obstetrics and gynaecology.

A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.

P. Lockhart, C. Nellåker, D. Wieczorek, 2021, American journal of human genetics.

Two novel WTX mutations underscore the unpredictability of male survival in osteopathia striata with cranial sclerosis

G. Mortier, W. Van Hul, R. Koenig, 2011, Clinical genetics.

Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome

W. Reardon, G. Mortier, O. Klein, 2011, American journal of medical genetics. Part A.

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes

H. Smeets, A. Paulussen, A. Haeringen, 2010, European Journal of Human Genetics.

TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions.

J. Rosenfeld, J. Lupski, R. Gibbs, 2022, American journal of human genetics.

Germline Mutations in RASA1 Are Not Found in Patients with Klippel-Trenaunay Syndrome or Capillary Malformation with Limb Overgrowth

J. Mulliken, M. Vikkula, F. Forzano, 2013, Molecular Syndromology.

Searching for preeclampsia genes: the current position.

G. Pals, J. Aarnoudse, R. Arngrímsson, 2002, European journal of obstetrics, gynecology, and reproductive biology.

Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome

A. Jauch, K. Kutsche, C. Zweier, 2014, Orphanet Journal of Rare Diseases.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

I. Scheffer, H. Mefford, E. Zackai, 2018, American journal of human genetics.

The parent-of-origin effect of 10q22 in pre-eclamptic females coincides with two regions clustered for genes with down-regulated expression in androgenetic placentas.

G. Pals, M. van Dijk, M. Blankenstein, 2004, Molecular human reproduction.

Maternal segregation of the Dutch preeclampsia locus at 10q22 with a new member of the winged helix gene family

Marie van Dijk, M. Blankenstein, G. Dekker, 2005, Nature Genetics.

High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing

L. Hoefsloot, E. Korpershoek, J. Saris, 2022, Human mutation.

A genome-wide scan for preeclampsia in the Netherlands

H. Stefánsson, J. Gulcher, A. Kong, 2001, European Journal of Human Genetics.

A genome-wide scan reveals a maternal susceptibility locus for pre-eclampsia on chromosome 2p13.

H. Stefánsson, J. Gulcher, A. Kong, 1999, Human molecular genetics.

Genetics of preeclampsia: paradigm shifts

M. Blankenstein, C. Oudejans, A. Lachmeijer, 2006, Human Genetics.

Etiology and pathogenesis of robin sequence in a large Dutch cohort

R. Hennekam, H. Basart, K. Lichtenbelt, 2015, American journal of medical genetics. Part A.

Change in paternity: a risk factor for preeclampsia in multiparous women?

H. V. van Geijn, G. Dekker, A. Lachmeijer, 1999, Journal of reproductive immunology.

De novo mutations in the SET nuclear proto‐oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability

Magalie S Leduc, H. Brunner, S. Lalani, 2018, Human mutation.

Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling

J. Gille, A. Houweling, J. M. van Hagen, 2009, Clinical dysmorphology.

NIPT‐based screening for Down syndrome and beyond: what do pregnant women think?

D. Timmermans, W. Dondorp, L. Henneman, 2015, Prenatal diagnosis.

HELLP babies link a novel lincRNA to the trophoblast cell cycle.

M. van Dijk, G. Kleiverda, D. Sie, 2012, The Journal of clinical investigation.

LINKAGE AND ASSOCIATION STUDIES OF IL1B AND IL1RN GENE POLYMORPHISMS IN PREECLAMPSIA

G. Pals, L. Sandkuijl, J. Aarnoudse, 2002, Hypertension in pregnancy.

De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder.

R. Pfundt, H. Firth, H. Brunner, 2019, American journal of human genetics.

European multicentre studies in the field of obstetrics.

H P van Geijn, H. V. van Geijn, F. J. Copray, 1993, European journal of obstetrics, gynecology, and reproductive biology.

Polymorphisms in the tumor necrosis factor and lymphotoxin-alpha gene region and preeclampsia.

G. Pals, R. Arngrímsson, G. Dekker, 2001, Obstetrics and gynecology.

Mutations in the gene for methylenetetrahydrofolate reductase, homocysteine levels, and vitamin status in women with a history of preeclampsia.

G. Pals, J. Aarnoudse, R. Arngrímsson, 2001, American journal of obstetrics and gynecology.

Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes

H. Yntema, H. Yntema, I. van der Burgt, 2010, Prenatal diagnosis.

Polymorphisms in the Tumor Necrosis Factor and Lymphotoxin‐α Gene Region and Preeclampsia

G. Pals, R. Arngrímsson, J. Crusius, 2001 .

Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome

W. Reardon, G. Mortier, O. Klein, 2011, American journal of medical genetics. Part A.

Successful Electroconvulsive Therapy in a Patient With Catatonia and a Rare HIVEP2 Mutation.

A. Lachmeijer, H. V. van Mierlo, J. V. van Griensven, 2023, The journal of ECT.