EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus

Por Hoefsloot, Lies H, Roux, Anne-Françoise, Bitner-Glindzicz, Maria
Publicado em 2013

Hearing loss and connexin 26

Por Kemperman, Martijn H, Hoefsloot, Lies H, Cremers, Cor W R J
Publicado em 2002

Outcome of ABCA4 microarray screening in routine clinical practice

Por Ernest, Paul J.G., Boon, Camiel J.F., Klevering, B. Jeroen, Hoefsloot, Lies H., Hoyng, Carel B.
Publicado em 2009

Congenital T Cell Deficiency in a Patient with CHARGE Syndrome

Por Hoover-Fong, Julie, Savage, William J., Lisi, Emily, Winkelstein, Jerry, Thomas, George H., Hoefsloot, Lies H., Loeb, David M.
Publicado no J Pediatr (2009)

Is routine karyotyping required in prenatal samples with a molecular or metabolic referral?

Por Kooper, Angelique JA, Pieters, Jacqueline JPM, Faas, Brigitte HW, Hoefsloot, Lies H, van der Burgt, Ineke, Zondervan, Hans A, Smits, Arie PT
Publicado em 2012

Physiology: DAZLA: An Important Candidate Gene in Male Subfertility?

Por van Golde, Ron J. T., Tuerlings, Joep H. A. M., Kremer, Jan A. M., Braat, Didi D. M., Schoute, Frans, Hoefsloot, Lies H.
Publicado em 2001

Novel NCC mutants and functional analysis in a new cohort of patients with Gitelman syndrome

Por Glaudemans, Bob, Yntema, Helger G, San-Cristobal, Pedro, Schoots, Jeroen, Pfundt, Rolph, Kamsteeg, Erik-J, Bindels, René J, Knoers, Nine VAM, Hoenderop, Joost G, Hoefsloot, Lies H
Publicado em 2012

Identification of 51 Novel Exons of the Usher Syndrome Type 2A (USH2A) Gene That Encode Multiple Conserved Functional Domains and That Are Mutated in Patients with Usher Syndrome T...

Por van Wijk, Erwin, Pennings, Ronald J. E., te Brinke, Heleen, Claassen, Annemarie, Yntema, Helger G., Hoefsloot, Lies H., Cremers, Frans P. M., Cremers, Cor. W. R. J., Kremer, Hannie
Publicado em 2004

A de novo non-sense mutation in ZBTB18 in a patient with features of the 1q43q44 microdeletion syndrome

Por de Munnik, Sonja A, García-Miñaúr, Sixto, Hoischen, Alexander, van Bon, Bregje W, Boycott, Kym M, Schoots, Jeroen, Hoefsloot, Lies H, Knoers, Nine VAM, Bongers, Ernie MHF, Brunner, Han G
Publicado em 2014

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

TRPC6 Single Nucleotide Polymorphisms and Progression of Idiopathic Membranous Nephropathy

Por Hofstra, Julia M., Coenen, Marieke J. H., Schijvenaars, Mascha M. V. A. P., Berden, Jo H. M., van der Vlag, Johan, Hoefsloot, Lies H., Knoers, Nine V. A. M., Wetzels, Jack F. M., Nijenhuis, Tom
Publicado em 2014

Missense Mutations in POU4F3 Cause Autosomal Dominant Hearing Impairment DFNA15 and Affect Subcellular Localization and DNA Binding

Por Collin, Rob W.J., Chellappa, Ramesh, Pauw, Robert-Jan, Vriend, Gert, Oostrik, Jaap, van Drunen, Wendy, Huygen, Patrick L., Admiraal, Ronald, Hoefsloot, Lies H., Cremers, Frans P.M., Xiang, Mengqing, Cremers, Cor W.R.J., Kremer, Hannie
Publicado em 2008

Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5

Por Seco, Celia Zazo, Oonk, Anne MM, Domínguez-Ruiz, María, Draaisma, Jos MT, Gandía, Marta, Oostrik, Jaap, Neveling, Kornelia, Kunst, Henricus PM, Hoefsloot, Lies H, del Castillo, Ignacio, Pennings, Ronald JE, Kremer, Hannie, Admiraal, Ronald JC, Schraders, Margit
Publicado no Eur J Hum Genet (2015)

Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration

Por Duvvari, Maheswara R., Saksens, Nicole T.M., van de Ven, Johannes P.H., de Jong-Hesse, Yvonne, Schick, Tina, Nillesen, Willy M., Fauser, Sascha, Hoefsloot, Lies H., Hoyng, Carel B., de Jong, Eiko K., den Hollander, Anneke I.
Publicado no Mol Vis (2015)

Mucolipidosis type III, a series of adult patients

Por Oussoren, Esmee, van Eerd, David, Murphy, Elaine, Lachmann, Robin, van der Meijden, Jan C., Hoefsloot, Lies H., Verdijk, Rob, Ruijter, George J. G., Maas, Mario, Hollak, Carla E. M., Langendonk, Janneke G., van der Ploeg, Ans T., Langeveld, Mirjam
Publicado no J Inherit Metab Dis (2018)

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

The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice

Por van Huet, Ramon A. C., Pierrache, Laurence H.M., Meester-Smoor, Magda A., Klaver, Caroline C.W., van den Born, L. Ingeborgh, Hoyng, Carel B., de Wijs, Ilse J., Collin, Rob W. J., Hoefsloot, Lies H., Klevering, B. Jeroen
Publicado no Mol Vis (2015)

Mutations in the Human TBX4 Gene Cause Small Patella Syndrome

Por Bongers, Ernie M. H. F., Duijf, Pascal H. G., van Beersum, Sylvia E. M., Schoots, Jeroen, van Kampen, Albert, Burckhardt, Andreas, Hamel, Ben C. J., Lošan, František, Hoefsloot, Lies H., Yntema, Helger G., Knoers, Nine V. A. M., van Bokhoven, Hans
Publicado em 2004

Placental studies elucidate discrepancies between NIPT showing a structural chromosome aberration and a differently abnormal fetal karyotype

Por Van Opstal, Diane, van Veen, Stefanie, Joosten, Marieke, Diderich, Karin E.M., Govaerts, Lutgarde C.P., Polak, Joke, van Koetsveld, Nicole, Boter, Marjan, Go, Attie T.J.I., Papatsonis, Dimitri N.M., Prinsen, Krista, Hoefsloot, Lies H., Srebniak, Malgorzata I.
Publicado no Prenat Diagn (2019)

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