Pulsatile Tinnitus: Differential Diagnosis and Radiological Work-Up

Por Pegge, Sjoert A. H., Steens, Stefan C. A., Kunst, Henricus P. M., Meijer, Frederick J. A.
Publicado no Curr Radiol Rep (2017)

Audiological Evaluation of Affected Members from a Dutch DFNA8/12 (TECTA) Family

Por Plantinga, Rutger F., Cremers, Cor W.R.J., Huygen, Patrick L.M., Kunst, Henricus P.M., Bosman, Arjan J.
Publicado em 2006

A Novel TECTA Mutation in a Dutch DFNA8/12 Family Confirms Genotype–Phenotype Correlation

Por Plantinga, Rutger F., de Brouwer, Arjan P.M., Huygen, Patrick L.M., Kunst, Henricus P.M., Kremer, Hannie, Cremers, Cor W.R.J.
Publicado em 2006

Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1

Por Hogewind, Barend F.T., Pennings, Ronald J.E., Hol, Frans A., Kunst, Henricus P.M., Hoefsloot, Elisabeth H., Cruysberg, Johannes R.M., Cremers, Cor W.R.J.
Publicado em 2010

Paediatric Cochlear Implantation in Patients with Waardenburg Syndrome

Por van Nierop, Josephine W.I., Snabel, Rebecca R., Langereis, Margreet, Pennings, Ronald J.E., Admiraal, Ronald J.C., Mylanus, Emmanuel A.M., Kunst, Henricus P.M.
Publicado no Audiol Neurootol (2016)

Mutations in PTPRQ Are a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB84 and Associated with Vestibular Dysfunction

Por Schraders, Margit, Oostrik, Jaap, Huygen, Patrick L.M., Strom, Tim M., van Wijk, Erwin, Kunst, Henricus P.M., Hoefsloot, Lies H., Cremers, Cor W.R.J., Admiraal, Ronald J.C., Kremer, Hannie
Publicado em 2010

Mutations in DVL1 Cause an Osteosclerotic Form of Robinow Syndrome

Por Bunn, Kieran J., Daniel, Phil, Rösken, Heleen S., O’Neill, Adam C., Cameron-Christie, Sophia R., Morgan, Tim, Brunner, Han G., Lai, Angeline, Kunst, Henricus P.M., Markie, David M., Robertson, Stephen P.
Publicado no Am J Hum Genet (2015)

Disruption of Teashirt Zinc Finger Homeobox 1 Is Associated with Congenital Aural Atresia in Humans

Por Feenstra, Ilse, Vissers, Lisenka E.L.M., Pennings, Ronald J.E., Nillessen, Willy, Pfundt, Rolph, Kunst, Henricus P., Admiraal, Ronald J., Veltman, Joris A., van Ravenswaaij-Arts, Conny M.A., Brunner, Han G., Cremers, Cor W.R.J.
Publicado em 2011

The first Dutch SDHB founder deletion in paraganglioma – pheochromocytoma patients

Por Bayley, Jean-Pierre, Grimbergen, Anneliese EM, van Bunderen, Patrick A, van der Wielen, Michiel, Kunst, Henricus P, Lenders, Jacques W, Jansen, Jeroen C, Dullaart, Robin PF, Devilee, Peter, Corssmit, Eleonora P, Vriends, Annette H, Losekoot, Monique, Weiss, Marjan M
Publicado em 2009

Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment

Por Schraders, Margit, Haas, Stefan A., Weegerink, Nicole J.D., Oostrik, Jaap, Hu, Hao, Hoefsloot, Lies H., Kannan, Sriram, Huygen, Patrick L.M., Pennings, Ronald J.E., Admiraal, Ronald J.C., Kalscheuer, Vera M., Kunst, Henricus P.M., Kremer, Hannie
Publicado em 2011

Genotype–Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations

Por Weegerink, Nicole J. D., Schraders, Margit, Oostrik, Jaap, Huygen, Patrick L. M., Strom, Tim M., Granneman, Susanne, Pennings, Ronald J. E., Venselaar, Hanka, Hoefsloot, Lies H., Elting, Mariet, Cremers, Cor W. R. J., Admiraal, Ronald J. C., Kremer, Hannie, Kunst, Henricus P. M.
Publicado em 2011

Similar phenotypes caused by mutations in OTOG and OTOGL

Por Oonk, Anne M.M., Leijendeckers, Joop M., Huygen, Patrick L.M., Schraders, Margit, del Campo, Miguel, del Castillo, Ignacio, Tekin, Mustafa, Feenstra, Ilse, Beynon, Andy J., Kunst, Henricus P.M., Snik, Ad F.M., Kremer, Hannie, Admiraal, Ronald J.C., Pennings, Ronald J.E.
Publicado em 2014

Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment

Por Schraders, Margit, Lee, Kwanghyuk, Oostrik, Jaap, Huygen, Patrick L.M., Ali, Ghazanfar, Hoefsloot, Lies H., Veltman, Joris A., Cremers, Frans P.M., Basit, Sulman, Ansar, Muhammad, Cremers, Cor W.R.J., Kunst, Henricus P.M., Ahmad, Wasim, Admiraal, Ronald J.C., Leal, Suzanne M., Kremer, Hannie
Publicado em 2010

Inactivation of SDH and FH cause loss of 5hmC and increased H3K9me3 in paraganglioma/pheochromocytoma and smooth muscle tumors

Por Hoekstra, Attje S., de Graaff, Marieke A., Briaire-de Bruijn, Inge H., Ras, Cor, Seifar, Reza Maleki, van Minderhout, Ivonne, Cornelisse, Cees J., Hogendoorn, Pancras C.W., Breuning, Martijn H., Suijker, Johnny, Korpershoek, Esther, Kunst, Henricus P.M., Frizzell, Norma, Devilee, Peter, Bayley, Jean-Pierre, Bovée, Judith V.M.G.
Publicado no Oncotarget (2015)

Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas

Por Hoekstra, Attje S., Hensen, Erik F., Jordanova, Ekaterina S., Korpershoek, Esther, Anouk N.A., van der Horst-Schrivers, Cornelisse, Cees, Corssmit, Eleonora P.M., Hes, Frederik J., Jansen, Jeroen C., Kunst, Henricus P.M., Timmers, Henri J.L.M., Bateman, Adrian, Eccles, Diana, Bovée, Judith V.M.G., Devilee, Peter, Bayley, Jean-Pierre
Publicado no Oncotarget (2017)

Mutations of the Gene Encoding Otogelin Are a Cause of Autosomal-Recessive Nonsyndromic Moderate Hearing Impairment

Por Schraders, Margit, Ruiz-Palmero, Laura, Kalay, Ersan, Oostrik, Jaap, del Castillo, Francisco J., Sezgin, Orhan, Beynon, Andy J., Strom, Tim M., Pennings, Ronald J.E., Seco, Celia Zazo, Oonk, Anne M.M., Kunst, Henricus P.M., Domínguez-Ruiz, María, García-Arumi, Ana M., del Campo, Miguel, Villamar, Manuela, Hoefsloot, Lies H., Moreno, Felipe, Admiraal, Ronald J.C., del Castillo, Ignacio, Kremer, Hannie
Publicado em 2012

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

Por Zazo Seco, Celia, Serrão de Castro, Luciana, van Nierop, Josephine W., Morín, Matías, Jhangiani, Shalini, Verver, Eva J.J., Schraders, Margit, Maiwald, Nadine, Wesdorp, Mieke, Venselaar, Hanka, Spruijt, Liesbeth, Oostrik, Jaap, Schoots, Jeroen, van Reeuwijk, Jeroen, Lelieveld, Stefan H., Huygen, Patrick L.M., Insenser, María, Admiraal, Ronald J.C., Pennings, Ronald J.E., Hoefsloot, Lies H., Arias-Vásquez, Alejandro, de Ligt, Joep, Yntema, Helger G., Jansen, Joop H., Muzny, Donna M., Huls, Gerwin, van Rossum, Michelle M., Lupski, James R., Moreno-Pelayo, Miguel Angel, Kunst, Henricus P.M., Kremer, Hannie
Publicado no Am J Hum Genet (2015)