Phelan-McDermid syndrome due to SHANK3 mutation in an intellectually disabled adult male: successful treatment with lithium

Yazar: Egger, Jos I M, Verhoeven, Willem M A, Groenendijk-Reijenga, Renske, Kant, Sarina G
Yayımlandı BMJ Case Rep (2017)

Assessment of the Clinical Benefit of Imaging in Children With Unilateral Sensorineural Hearing Loss: A Systematic Review and Meta-analysis

Yazar: Ropers, Fabienne G., Pham, Eveline N. B., Kant, Sarina G., Rotteveel, Liselotte J. C., Rings, Edmond H. H. M., Verbist, Berit M., Dekkers, Olaf M.
Yayımlandı JAMA Otolaryngol Head Neck Surg (2019)

Successful Growth Hormone Therapy in Cornelia de Lange Syndrome

Yazar: de Graaf, Michael, Kant, Sarina G, Wit, Jan Maarten, Redeker, Egbert Johan Willem, Santen, Gijs Willem Eduard, Verkerk, Annemieke Johanna Maria Henriëtta, Uitterlinden, André Gerardus, Losekoot, Monique, Oostdijk, Wilma
Yayımlandı J Clin Res Pediatr Endocrinol (2017)

Transcription factor E2-2 is an essential and specific regulator of plasmacytoid dendritic cell development

Yazar: Cisse, Babacar, Caton, Michele L., Lehner, Manfred, Maeda, Takahiro, Scheu, Stefanie, Locksley, Richard, Holmberg, Dan, Zweier, Christiane, den Hollander, Nicolette S., Kant, Sarina G., Holter, Wolfgang, Rauch, Anita, Zhuang, Yuan, Reizis, Boris
Baskı/Yayın Bilgisi 2008

A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first

Yazar: Gijsbers, Antoinet CJ, Lew, Janet YK, Bosch, Cathy AJ, Schuurs-Hoeijmakers, Janneke HM, van Haeringen, Arie, den Hollander, Nicolette S, Kant, Sarina G, Bijlsma, Emilia K, Breuning, Martijn H, Bakker, Egbert, Ruivenkamp, Claudia AL
Baskı/Yayın Bilgisi 2009

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

Yazar: Gilissen, Christian, Arts, Heleen H., Hoischen, Alexander, Spruijt, Liesbeth, Mans, Dorus A., Arts, Peer, van Lier, Bart, Steehouwer, Marloes, van Reeuwijk, Jeroen, Kant, Sarina G., Roepman, Ronald, Knoers, Nine V.A.M., Veltman, Joris A., Brunner, Han G.
Baskı/Yayın Bilgisi 2010

Phenotypic characterization of patients with deletions in the 3’-flanking SHOX region

Yazar: Kant, Sarina G., Broekman, Sander J., de Wit, Caroline C., Bos, Marloes, Scheltinga, Sitha A., Bakker, Egbert, Oostdijk, Wilma, van der Kamp, Hetty J., van Zwet, Erik W., van der Hout, Annemieke H., Wit, Jan M., Losekoot, Monique
Baskı/Yayın Bilgisi 2013

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11

Yazar: Wentzel, Christian, Rajcan-Separovic, Evica, Ruivenkamp, Claudia A L, Chantot-Bastaraud, Sandra, Metay, Corinne, Andrieux, Joris, Annerén, Göran, Gijsbers, Antoinet C J, Druart, Luc, Hyon, Capucine, Portnoi, Marie-France, Stattin, Eva-Lena, Vincent-Delorme, Catherine, Kant, Sarina G, Steinraths, Michelle, Marlin, Sandrine, Giurgea, Irina, Thuresson, Ann-Charlotte
Baskı/Yayın Bilgisi 2011

PAPSS2 Deficiency Causes Androgen Excess via Impaired DHEA Sulfation—In Vitro and in Vivo Studies in a Family Harboring Two Novel PAPSS2 Mutations

Yazar: Oostdijk, Wilma, Idkowiak, Jan, Mueller, Jonathan W., House, Philip J., Taylor, Angela E., O'Reilly, Michael W., Hughes, Beverly A., de Vries, Martine C., Kant, Sarina G., Santen, Gijs W. E., Verkerk, Annemieke J. M. H., Uitterlinden, André G., Wit, Jan M., Losekoot, Monique, Arlt, Wiebke
Yayımlandı J Clin Endocrinol Metab (2015)

Genetic Findings in Short Turkish Children Born to Consanguineous Parents

Yazar: Joustra, Sjoerd D., Isik, Emregul, Wit, Jan M., Catli, Gonul, Anik, Ahmet, Haliloglu, Belma, Kandemir, Nurgun, Ozsu, Elif, Hendriks, Yvonne M.C., de Bruin, Christiaan, Kant, Sarina G., Campos-Barros, Angel, Challis, Rachel C., Parry, David, Harley, Margaret E., Jackson, Andrew, Losekoot, Monique, van Duyvenvoorde, Hermine A.
Yayımlandı Horm Res Paediatr (2024)

De Novo Mutations of the Gene Encoding the Histone Acetyltransferase KAT6B Cause Genitopatellar Syndrome

Yazar: Simpson, Michael A., Deshpande, Charu, Dafou, Dimitra, Vissers, Lisenka E.L.M., Woollard, Wesley J., Holder, Susan E., Gillessen-Kaesbach, Gabriele, Derks, Ronny, White, Susan M., Cohen-Snuijf, Ruthy, Kant, Sarina G., Hoefsloot, Lies H., Reardon, Willie, Brunner, Han G., Bongers, Ernie M.H.F., Trembath, Richard C.
Baskı/Yayın Bilgisi 2012

A bone overgrowth disorder due to a gain-of-function mutation in the kinase homology domain of guanylyl cyclase B, the receptor for CNP

Yazar: Kuhn, Michaela, Premsler, Thomas, Yang, Ruey-Bing, Mueller, Thomas D, Gaßner, Birgit, Oberwinkler, Heike, Hannema, Sabine E, van Duyvenvoorde, Hermine A, Roelfsema, Ferdinand, Santen, Gijs WE, Prickett, Timothy, Kant, Sarina G, Verkerk, Annemieke JMH, Uitterlinden, André G, Espiner, Eric, Ruivenkamp, Claudia AL, Oostdijk, Wilma, Pereira, Alberto M, Losekoot, Monique, Wit, Jan M
Baskı/Yayın Bilgisi 2013

Copy number variants in patients with short stature

Yazar: van Duyvenvoorde, Hermine A, Lui, Julian C, Kant, Sarina G, Oostdijk, Wilma, Gijsbers, Antoinet CJ, Hoffer, Mariëtte JV, Karperien, Marcel, Walenkamp, Marie JE, Noordam, Cees, Voorhoeve, Paul G, Mericq, Verónica, Pereira, Alberto M, Claahsen-van de Grinten, Hedi L, van Gool, Sandy A, Breuning, Martijn H, Losekoot, Monique, Baron, Jeffrey, Ruivenkamp, Claudia AL, Wit, Jan M
Baskı/Yayın Bilgisi 2014

Homozygous and Compound-Heterozygous Mutations in TGDS Cause Catel-Manzke Syndrome

Yazar: Ehmke, Nadja, Caliebe, Almuth, Koenig, Rainer, Kant, Sarina G., Stark, Zornitza, Cormier-Daire, Valérie, Wieczorek, Dagmar, Gillessen-Kaesbach, Gabriele, Hoff, Kirstin, Kawalia, Amit, Thiele, Holger, Altmüller, Janine, Fischer-Zirnsak, Björn, Knaus, Alexej, Zhu, Na, Heinrich, Verena, Huber, Celine, Harabula, Izabela, Spielmann, Malte, Horn, Denise, Kornak, Uwe, Hecht, Jochen, Krawitz, Peter M., Nürnberg, Peter, Siebert, Reiner, Manzke, Hermann, Mundlos, Stefan
Yayımlandı Am J Hum Genet (2014)

De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment

Yazar: Smits, Jeroen J., Oostrik, Jaap, Beynon, Andy J., Kant, Sarina G., de Koning Gans, Pia A. M., Rotteveel, Liselotte J. C., Klein Wassink-Ruiter, Jolien S., Free, Rolien H., Maas, Saskia M., van de Kamp, Jiddeke, Merkus, Paul, Koole, Wouter, Feenstra, Ilse, Admiraal, Ronald J. C., Lanting, Cornelis P., Schraders, Margit, Yntema, Helger G., Pennings, Ronald J. E., Kremer, Hannie
Yayımlandı Hum Genet (2018)

Mutations in the Transmembrane Natriuretic Peptide Receptor NPR-B Impair Skeletal Growth and Cause Acromesomelic Dysplasia, Type Maroteaux

Yazar: Bartels, Cynthia F., Bükülmez, Hülya, Padayatti, Pius, Rhee, David K., van Ravenswaaij-Arts, Conny, Pauli, Richard M., Mundlos, Stefan, Chitayat, David, Shih, Ling-Yu, Al-Gazali, Lihadh I., Kant, Sarina, Cole, Trevor, Morton, Jenny, Cormier-Daire, Valérie, Faivre, Laurence, Lees, Melissa, Kirk, Jeremy, Mortier, Geert R., Leroy, Jules, Zabel, Bernhard, Kim, Chong Ae, Crow, Yanick, Braverman, Nancy E., van den Akker, Focco, Warman, Matthew L.
Baskı/Yayın Bilgisi 2004

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

Yazar: Ockeloen, Charlotte W, Willemsen, Marjolein H, de Munnik, Sonja, van Bon, Bregje WM, de Leeuw, Nicole, Verrips, Aad, Kant, Sarina G, Jones, Elizabeth A, Brunner, Han G, van Loon, Rosa LE, Smeets, Eric EJ, van Haelst, Mieke M, van Haaften, Gijs, Nordgren, Ann, Malmgren, Helena, Grigelioniene, Giedre, Vermeer, Sascha, Louro, Pedro, Ramos, Lina, Maal, Thomas JJ, van Heumen, Celeste C, Yntema, Helger G, Carels, Carine EL, Kleefstra, Tjitske
Yayımlandı Eur J Hum Genet (2015)

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

Yazar: Ockeloen, Charlotte W, Willemsen, Marjolein H, de Munnik, Sonja, van Bon, Bregje WM, de Leeuw, Nicole, Verrips, Aad, Kant, Sarina G, Jones, Elizabeth A, Brunner, Han G, van Loon, Rosa LE, Smeets, Eric EJ, van Haelst, Mieke M, van Haaften, Gijs, Nordgren, Ann, Malmgren, Helena, Grigelioniene, Giedre, Vermeer, Sascha, Louro, Pedro, Ramos, Lina, Maal, Thomas JJ, van Heumen, Celeste C, Yntema, Helger G, Carels, Carine EL, Kleefstra, Tjitske
Yayımlandı Eur J Hum Genet (2015)

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

Yazar: Zazo Seco, Celia, Wesdorp, Mieke, Feenstra, Ilse, Pfundt, Rolph, Hehir-Kwa, Jayne Y, Lelieveld, Stefan H, Castelein, Steven, Gilissen, Christian, de Wijs, Ilse J, Admiraal, Ronald JC, Pennings, Ronald JE, Kunst, Henricus PM, van de Kamp, Jiddeke M, Tamminga, Saskia, Houweling, Arjan C, Plomp, Astrid S, Maas, Saskia M, de Koning Gans, Pia AM, Kant, Sarina G, de Geus, Christa M, Frints, Suzanna GM, Vanhoutte, Els K, van Dooren, Marieke F, van den Boogaard, Marie- José H, Scheffer, Hans, Nelen, Marcel, Kremer, Hannie, Hoefsloot, Lies, Schraders, Margit, Yntema, Helger G
Yayımlandı Eur J Hum Genet (2017)

Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

Yazar: de Munnik, Sonja A, Bicknell, Louise S, Aftimos, Salim, Al-Aama, Jumana Y, van Bever, Yolande, Bober, Michael B, Clayton-Smith, Jill, Edrees, Alaa Y, Feingold, Murray, Fryer, Alan, van Hagen, Johanna M, Hennekam, Raoul C, Jansweijer, Maaike C E, Johnson, Diana, Kant, Sarina G, Opitz, John M, Ramadevi, A Radha, Reardon, Willie, Ross, Alison, Sarda, Pierre, Schrander-Stumpel, Constance T R M, Schoots, Jeroen, Temple, I Karen, Terhal, Paulien A, Toutain, Annick, Wise, Carol A, Wright, Michael, Skidmore, David L, Samuels, Mark E, Hoefsloot, Lies H, Knoers, Nine V A M, Brunner, Han G, Jackson, Andrew P, Bongers, Ernie M H F
Baskı/Yayın Bilgisi 2012