Search Results - "KANT, S. G"

Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients by Zweier, C, Sticht, H, Bijlsma, E K, Clayton-Smith, J, Boonen, S E, Fryer, A, Greally, M T, Hoffmann, L, den Hollander, N S, Jongmans, M, Kant, S G, King, M D, Lynch, S A, McKee, S, Midro, A T, Park, S-M, Ricotti, V, Tarantino, E, Wessels, M, Peippo, M, Rauch, A

“…Haploinsufficiency of the gene encoding for transcription factor 4 (TCF4) was recently identified as the underlying cause of Pitt-Hopkins syndrome (PTHS), an…”
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A Variable Degree of Intrauterine and Postnatal Growth Retardation in a Family with a Missense Mutation in the Insulin-Like Growth Factor I Receptor by Walenkamp, M. J. E., van der Kamp, H. J., Pereira, A. M., Kant, S. G., van Duyvenvoorde, H. A., Kruithof, M. F., Breuning, M. H., Romijn, J. A., Karperien, M., Wit, J. M.

“…Context: The type 1 IGF-I receptor (IGF1R) mediates the biological functions of IGF-I. Binding of IGF-I to the IGF1R results in autophosphorylation of the…”
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A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus by MACKAY, D. J. G, BOONEN, S. E, SHIELD, J. P. H, WHITE, H. E, TEMPLE, I. K, CLAYTON-SMITH, J, GOODSHIP, J, HAHNEMANN, J. M. D, KANT, S. G, NJOLSTAD, P. R, ROBIN, N. H, ROBINSON, D. O, SIEBERT, R

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Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases by Velde, Hedwig M., Vaseghi-Shanjani, Maryam, Smits, Jeroen J., Ramakrishnan, Gayatri, Oostrik, Jaap, Wesdorp, Mieke, Astuti, Galuh, Yntema, Helger G., Hoefsloot, Lies, Lanting, Cris P., Huynen, Martijn A., Lehman, Anna, Turvey, Stuart E., Pennings, Ronald J. E., Kremer, Hannie

“…Although more than 140 genes have been associated with non-syndromic hereditary hearing loss (HL), at least half of the cases remain unexplained in medical…”
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Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region by KANT, S. G, VAN DER WEIJ, A. M, OOSTDIJK, W, WIT, J. M, ROBINSON, D. O, TEMPLE, I. K, MACKAY, D. J. G

“…Transient neonatal diabetes mellitus (TNDM) is associated with paternal over-expression of an imprinted locus on chromosome 6q24, which contains one…”
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Phenotype and genotype in 101 males with X-linked creatine transporter deficiency by van de Kamp, J M, Betsalel, O T, Mercimek-Mahmutoglu, S, Abulhoul, L, Grünewald, S, Anselm, I, Azzouz, H, Bratkovic, D, de Brouwer, A, Hamel, B, Kleefstra, T, Yntema, H, Campistol, J, Vilaseca, M A, Cheillan, D, D'Hooghe, M, Diogo, L, Garcia, P, Valongo, C, Fonseca, M, Frints, S, Wilcken, B, von der Haar, S, Meijers-Heijboer, H E, Hofstede, F, Johnson, D, Kant, S G, Lion-Francois, L, Pitelet, G, Longo, N, Maat-Kievit, J A, Monteiro, J P, Munnich, A, Muntau, A C, Nassogne, M C, Osaka, H, Ounap, K, Pinard, J M, Quijano-Roy, S, Poggenburg, I, Poplawski, N, Abdul-Rahman, O, Ribes, A, Arias, A, Yaplito-Lee, J, Schulze, A, Schwartz, C E, Schwenger, S, Soares, G, Sznajer, Y, Valayannopoulos, V, Van Esch, H, Waltz, S, Wamelink, M M C, Pouwels, P J W, Errami, A, van der Knaap, M S, Jakobs, C, Mancini, G M, Salomons, G S

“…Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been…”
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The natural history and genotype–phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis by Colbert, Brett M., Lanting, Cris, Smeal, Molly, Blanton, Susan, Dykxhoorn, Derek M., Tang, Pei-Ciao, Getchell, Richard L., Velde, Hedwig, Fehrmann, Mirthe, Thorpe, Ryan, Chapagain, Prem, Elkhaligy, Heidy, Kremer, Hannie, Yntema, Helger, Haer-Wigman, Lonneke, Redfield, Shelby, Sun, Tieqi, Bruijn, Saskia, Plomp, Astrid, Goderie, Thadé, van de Kamp, Jiddeke, Free, Rolien H., Wassink-Ruiter, Jolien Klein, Widdershoven, Josine, Vanhoutte, Els, Rotteveel, Liselotte, Kriek, Marjolein, van Dooren, Marieke, Hoefsloot, Lies, de Gier, Heriette H. W., Schaefer, Amanda, Kolbe, Diana, Azaiez, Hela, Rabie, Grace, Aburayyan, Armal, Kawas, Mariana, Kanaan, Moien, Holder, Jourdan, Usami, Shin-ichi, Chen, Zhengyi, Dai, Pu, Holt, Jeffrey, Nelson, Rick, Choi, Byung Yoon, Shearer, Eliot, Smith, Richard J. H., Pennings, Ronald, Liu, Xue Zhong

“…TMPRSS3 -related hearing loss presents challenges in correlating genotypic variants with clinical phenotypes due to the small sample sizes of previous studies…”
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Tall stature and duplication of the insulin-like growth factor I receptor gene by Kant, S.G, Kriek, M, Walenkamp, M.J.E, Hansson, K.B.M, van Rhijn, A, Clayton-Smith, J, Wit, J.M, Breuning, M.H

“…Abstract Trisomy of 15q26-qter is frequently associated with tall stature and mental retardation. Here we describe a patient with such trisomy, without a…”
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Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant by Smits, Jeroen J., de Bruijn, Suzanne E., Lanting, Cornelis P., Oostrik, Jaap, O’Gorman, Luke, Mantere, Tuomo, Cremers, Frans P. M., Roosing, Susanne, Yntema, Helger G., de Vrieze, Erik, Derks, Ronny, Hoischen, Alexander, Pegge, Sjoert A. H., Neveling, Kornelia, Pennings, Ronald J. E., Kremer, Hannie

“…Pathogenic variants in SLC26A4 have been associated with autosomal recessive hearing loss (arHL) and a unilateral or bilateral enlarged vestibular aqueduct…”
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Mutations in CDMP1 cause autosomal dominant brachydactyly type C by Polinkovsky, Alexander, Robin, Nathaniel H, Thomas, J. Terrig, Irons, Mira, Lynn, Audrey, Goodman, Frances R, Reardon, William, Kant, Sarina G, Brunner, Han G, van der Burgt, Ineke, Chitayat, David, McGaughran, Julie, Donnai, Dian, Luyten, Frank P, Warman, Matthew L

“…We are interested in identifying genes that are responsible for the 'fine tuning' of skeletal structure. Brachydactylies - disorders in which individual bones,…”
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Correction to: Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant by Smits, Jeroen J., de Bruijn, Suzanne E., Lanting, Cornelis P., Oostrik, Jaap, O’Gorman, Luke, Mantere, Tuomo, Cremers, Frans P. M., Roosing, Susanne, Yntema, Helger G., de Vrieze, Erik, Derks, Ronny, Hoischen, Alexander, Pegge, Sjoert A. H., Neveling, Kornelia, Pennings, Ronald J. E., Kremer, Hannie

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Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss: a retrospective multicentre study by Fehrmann, M L A, Huinck, W J, Thijssen, M E G, Haer-Wigman, L, Yntema, H G, Rotteveel, L J C, Widdershoven, J C C, Goderie, T, van Dooren, M F, Hoefsloot, E H, van der Schroeff, M P, Mylanus, E A M, Lanting, C P, Pennings, R J E

“…The spiral ganglion hypothesis suggests that pathogenic variants in genes preferentially expressed in the spiral ganglion nerves (SGN), may lead to poor…”
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The growth response to GH treatment is greater in patients with SHOX enhancer deletions compared to SHOX defects by Donze, S H, Meijer, C R, Kant, S G, Zandwijken, G R J, van der Hout, A H, van Spaendonk, R M L, van den Ouweland, A M W, Wit, J M, Losekoot, M, Oostdijk, W

“…ObjectiveShort stature caused by point mutations or deletions of the short stature homeobox (SHOX) gene (SHOX haploinsufficiency (SHI)) is a registered…”
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Genetic analysis of short stature by Kant, S G, Wit, J M, Breuning, M H

“…Short stature is a major concern for patients and their parents, and represents a diagnostic challenge to the clinician. A correct diagnosis is of particular…”
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IGF1, IGF1R and SHOX mutation analysis in short children born small for gestational age and short children with normal birth size (idiopathic short stature) by Caliebe, Janina, Broekman, Sander, Boogaard, Merel, Bosch, Cathy A J, Ruivenkamp, Claudia A L, Oostdijk, Wilma, Kant, S G, Binder, Gerhard, Ranke, Michael B, Wit, Jan M, Losekoot, Monique

“…Because the criteria for genetic screening of short children are unknown, we performed genetic analysis of 199 short children born small for gestational age…”
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A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitus by Mackay, D J G, Boonen, S E, Clayton-Smith, J, Goodship, J, Hahnemann, J M D, Kant, S G, Njølstad, P R, Robin, N H, Robinson, D O, Siebert, R, Shield, J P H, White, H E, Temple, I K

“…The expression of imprinted genes is mediated by allele-specific epigenetic modification of genomic DNA and chromatin, including parent of origin-specific DNA…”
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Rothmund-Thomson syndrome and osteoma cutis in a patient previously diagnosed as COPS syndrome by van Rij, M. C., Grijsen, M. L., Appelman-Dijkstra, N. M., Hansson, K. B. M., Ruivenkamp, C. A. L., Mulder, K., van Doorn, R., Oranje, A. P., Kant, S. G.

“…We present a patient with poikiloderma, severe osteoporosis and a mild intellectual disability. At the age of 9 years, this patient was proposed to suffer from…”
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Clinical and molecular characteristics of 1qter microdeletion syndrome: delineating a critical region for corpus callosum agenesis/hypogenesis by van Bon, B W M, Koolen, D A, Borgatti, R, Magee, A, Garcia-Minaur, S, Rooms, L, Reardon, W, Zollino, M, Bonaglia, M C, De Gregori, M, Novara, F, Grasso, R, Ciccone, R, van Duyvenvoorde, H A, Aalbers, A M, Guerrini, R, Fazzi, E, Nillesen, W M, McCullough, S, Kant, S G, Marcelis, C L, Pfundt, R, de Leeuw, N, Smeets, D, Sistermans, E A, Wit, J M, Hamel, B C, Brunner, H G, Kooy, F, Zuffardi, O, de Vries, B B A

“…Patients with a microscopically visible deletion of the distal part of the long arm of chromosome 1 have a recognisable phenotype, including mental…”
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Genetic analysis of short children with apparent growth hormone insensitivity by Wit, J M, van Duyvenvoorde, H A, Scheltinga, S A, de Bruin, S, Hafkenscheid, L, Kant, S G, Ruivenkamp, C A L, Gijsbers, A C J, van Doorn, J, Feigerlova, E, Noordam, C, Walenkamp, M J, Claahsen-van de Grinten, H, Stouthart, P, Bonapart, I E, Pereira, A M, Gosen, J, Delemarre-van de Waal, H A, Hwa, V, Breuning, M H, Domené, H M, Oostdijk, W, Losekoot, M

“…In short children, a low IGF-I and normal GH secretion may be associated with various monogenic causes, but their prevalence is unknown. We aimed at testing…”
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Genetic analysis of tall stature by Kant, S G, Wit, J M, Breuning, M H

“…Tall stature is less often experienced as an important problem than short stature. However, a correct diagnosis may be of eminent importance, especially when…”
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