H. Yntema

发表

Zinc finger 81 (ZNF81) mutations associated with X-linked mental retardation

H. Ropers, I. Janssen, H. Bokhoven, 2004, Journal of Medical Genetics.

Noonan Syndrome: Comparing Mutation-Positive with Mutation-Negative Dutch Patients

H. Scheffer, W. Nillesen, H. Yntema, 2013, Molecular Syndromology.

De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia

T. Kleefstra, H. van Bokhoven, E. Sistermans, 2002, Clinical genetics.

Rare polymorphic variants of the AGTR2 gene in boys with non-specific mental retardation

H. Van Esch, J. Fryns, H. Ropers, 2003, Journal of medical genetics.

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

J. Schuurs-Hoeijmakers, A. Hoischen, A. Reymond, 2013, Clinical genetics.

A novel ribosomal S6-kinase (RSK4; RPS6KA6) is commonly deleted in patients with complex X-linked mental retardation.

H. Brunner, F. Cremers, H. Ropers, 1999, Genomics.

Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome

B. D. de Vries, H. Brunner, H. Van Esch, 2005, Journal of Medical Genetics.

Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions

A. Hoischen, N. de Leeuw, J. Tolmie, 2011, Clinical genetics.

Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH

B. D. de Vries, J. Veltman, H. Bokhoven, 2005, Journal of Medical Genetics.

High resolution profiling of X chromosomal aberrations by array comparative genomic hybridisation

P. D. de Jong, K. Osoegawa, J. Veltman, 2004, Journal of Medical Genetics.

Points to consider for laboratories reporting results from diagnostic genomic sequencing

K. Sénécal, P. Borry, D. Vears, 2017, European Journal of Human Genetics.

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

R. Pfundt, H. Brunner, H. Bokhoven, 2009, Journal of Medical Genetics.

Genotype‐phenotype studies in three families with mutations in the polyglutamine‐binding protein 1 gene (PQBP1)

T. Kleefstra, H. van Bokhoven, B. Hamel, 2004, Clinical genetics.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

N. de Leeuw, J. Tolmie, Z. Tümer, 2013, Human Genetics.

X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region.

E. Mariman, H. Kremer, H. van Bokhoven, 1999, American journal of medical genetics.

TO JMG Z inc finger 81 ( ZNF 81 ) mutations associated with X-linked mental retardation

I. Janssen, J. Fryns, T. Kleefstra, 2004 .

Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26.

H. Kremer, H. van Bokhoven, A. Smits, 1998, Journal of medical genetics.

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction

M. Huynen, A. Beynon, P. Lichtner, 2018, Human Genetics.

Update on Kleefstra Syndrome

A. V. Vulto-van Silfhout, W. Reardon, N. Philip, 2012, 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.

De novo WNT5A‐associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype

H. Brunner, D. Chitayat, H. Venselaar, 2015, Clinical genetics.

Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss: a retrospective multicentre study

E. Mylanus, C. Lanting, H. Yntema, 2023, Journal of otolaryngology - head & neck surgery = Le Journal d'oto-rhino-laryngologie et de chirurgie cervico-faciale.

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.