H. Brunner

发表

Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene.

H. Brunner, M. C. de Waal Malefijt, F. V. D. van den Hoogen, 1997, American journal of medical genetics.

A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome

H. G. Brunner, C. Cremers, S. Nabuurs, 2005, Journal of Molecular Medicine.

CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy

J A Veltman, W Cahn, R A Ophoff, 2008, Molecular Psychiatry.

Clinical findings with implications for genetic testing in families with clustering of colorectal cancer.

A. Zwinderman, K. Heimdal, P. Møller, 1998, The New England journal of medicine.

POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome

M. Huynen, C. Walsh, F. Muntoni, 2005, Journal of Medical Genetics.

DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.

B. V. van Bon, A. Hoischen, J. Lupski, 2016, American journal of human genetics.

Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome

Han G. Brunner, Hülya Kayserili, Flemming Skovby, 2000, Nature Genetics.

Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy.

B. J. Klevering, A. Deutman, H. Brunner, 2000, American journal of human genetics.

Pallister-Killian syndrome: characterization of the isochromosome 12p by fluorescent in situ hybridization.

F. Speleman, H. Brunner, L. Looijenga, 1991, American journal of medical 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.

Plasma metadrenalines: do they provide useful information about sympatho-adrenal function and catecholamine metabolism?

D. Murphy, A. Quyyumi, H. Brunner, 1995, Clinical science.

High prevalence of premalignant lesions in prophylactically removed breasts from women at hereditary risk for breast cancer.

L. Kiemeney, P. Bult, H. Brunner, 2003, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

R. Pfundt, M. Reijnders, B. Franke, 2017, Nature Communications.

Limb mammary syndrome: a new genetic disorder with mammary hypoplasia, ectrodactyly, and other Hand/Foot anomalies maps to human chromosome 3q27.

T. Wienker, E. Mariman, H. Brunner, 1999, American journal of human genetics.

Genotype versus phenotype in families with androgen insensitivity syndrome.

W J Kleijer, T. H. van der Kwast, H. Brunner, 2001, The Journal of clinical endocrinology and metabolism.

A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2–q13.4

C. Cremers, H. Brunner, H. Kremer, 2007, Journal of Molecular Medicine.

Numerous high-risk epithelial lesions in familial breast cancer.

L. Kiemeney, P. Bult, H. Brunner, 2006, European journal of cancer.

A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population

H. Brunner, F. Cremers, S. Yzer, 2003, Journal of medical genetics.

CHD7 mutations in patients initially diagnosed with Kallmann syndrome – the clinical overlap with CHARGE syndrome

L. Hoefsloot, W. Crowley, T. Ogata, 2009, Clinical genetics.

Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing

G. Vriend, A. Hoischen, I. V. van Rooij, 2017, Journal of dental research.

Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy.

C. Junien, H. Brunner, T. Ashizawa, 1994, American journal of human genetics.

A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype

B. Cormand, W. Dobyns, H. van Bokhoven, 2003, Journal of medical genetics.

Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.

H. Kremer, H. Ropers, J. Wit, 1993, Human molecular genetics.

Assignment of X-linked hydrocephalus to Xq28 by linkage analysis.

S. Warren, C. van Broeckhoven, G. Consalez, 1990, Genomics.

Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies.

P. Bovolenta, H. Brunner, J. Lopez-Rios, 1999, Genomics.

Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation

H. Brunner, E. Lemyre, R. Wevers, 2008, European Journal of Human Genetics.

Craniosynostosis associated with ectopia lentis in monozygotic twin sisters.

J. Cruysberg, H. Brunner, C. V. van Ravenswaaij-Arts, 1999, American journal of medical genetics.

A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.

C. Cremers, H. Brunner, C. Morton, 1999, Human molecular genetics.

IMPROVED EARLY DIAGNOSIS OF ADULT POLYCYSTIC KIDNEY DISEASE WITH FLANKING DNA MARKERS

P. Pearson, J. Saris, M. Breuning, 1987, The Lancet.

Specific genetic deficiencies of the A and B isoenzymes of monoamine oxidase are characterized by distinct neurochemical and clinical phenotypes.

A H van Gennip, D. Murphy, H. Brunner, 1996, The Journal of clinical investigation.

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.

H. Brunner, F. McKeon, J. McGrath, 2001, Human molecular genetics.

A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious puberty.

H. Brunner, H. Kremer, E. Milgrom, 1995, The Journal of clinical endocrinology and metabolism.

Analysis of mutations in genes of the follicle-stimulating hormone receptor signaling pathway in ovarian granulosa cell tumors.

H. Brunner, M. Ligtenberg, A. Themmen, 1999, The Journal of clinical endocrinology and metabolism.

Psychological distress in newly diagnosed colorectal cancer patients following microsatellite instability testing for Lynch syndrome on the pathologist’s initiative

H. Brunner, M. Ligtenberg, F. Nagengast, 2012, Familial Cancer.