Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Yvonne M C Hendriks"'
WT1 Deletion Leading to Severe 46,XY Gonadal Dysgenesis, Wilms Tumor and Gonadoblastoma: Case Report
Autor:
Yvonne M C Hendriks, Joost Rotteveel, M Paola Lombardi, J Patrick van der Voorn, Margreet A. Veening, Martijn J. J. Finken
Publikováno v:
Hormone Research in Paediatrics. 83:211-216
Background: Heterozygous missense mutations in the WT1 gene that affect the function of the wild-type allele have been identified in Denys-Drash syndrome, which is characterized by severe gonadal dysgenesis, early-onset nephropathy and a predispositi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b0a3f4b8e23f8d0955b829fce6c32f24
https://doi.org/10.1159/000368964
https://doi.org/10.1159/000368964
Autor:
Saskia, Tamminga, Susanne E, Stalman, Gerdine A, Kamp, Yvonne M C, Hendriks, A C Lia, Knegt, M W Mariet, Elting
Publikováno v:
Nederlands tijdschrift voor geneeskunde. 159
Maternal uniparental disomy 14 is a rare genetic disorder in which both chromosomes 14 are maternally inherited. The disorder is characterised by neonatal hypotonia and feeding difficulties, intrauterine or later growth retardation, truncal obesity a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::62703c9822b7e809893bc0d744a55a2c
https://pubmed.ncbi.nlm.nih.gov/25898865
https://pubmed.ncbi.nlm.nih.gov/25898865
WT1 deletion leading to severe 46,XY gonadal dysgenesis, Wilms tumor and gonadoblastoma: case report
Autor:
Martijn J J, Finken, Yvonne M C, Hendriks, J Patrick, van der Voorn, Margreet A, Veening, M Paola, Lombardi, Joost, Rotteveel
Publikováno v:
Hormone research in paediatrics. 83(3)
Heterozygous missense mutations in the WT1 gene that affect the function of the wild-type allele have been identified in Denys-Drash syndrome, which is characterized by severe gonadal dysgenesis, early-onset nephropathy and a predisposition to renal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c899faccbd46cd14bbe893155cb03e8f
https://pubmed.ncbi.nlm.nih.gov/25613702
https://pubmed.ncbi.nlm.nih.gov/25613702
Autor:
Murray Feingold, Ivan F M Lo, Francesco Brancati, Kate Pope, Beate Albrecht, Chong Ae Kim, Stephanie Moortgat, Katerina Harwood, Greta Gillies, Anne Slavotinek, Verónica Mericq, Jane A. Hurst, Didier Lacombe, Estevan Luiz da Silveira, Meghan Connolly, Judith Allanson, Ernie M.H.F. Bongers, Marleen Simon, Susan M. White, Paolo Balestri, Usha Kini, Anne Destree, Han G. Brunner, Alexandra Afenjar, James D. Weisfeld-Adams, Sarina G. Kant, Bert B.A. de Vries, Francesca Forzano, Neeti Ghali, Alessandra Renieri, Nine V A M Knoers, Claire M Jacob, Kym M. Boycott, Andrew Dauber, Joaquim Sá, Ineke van der Burgt, Jennifer Ibrahim, Dagmar Wierczorek, Chung Lee, Sanne Traasdahl Møller, Jeroen Schoots, Delphine Héron, Francesca Mari, Jukka S. Moilanen, Małgorzata J.M. Nowaczyk, Dennis E. Bulman, Oana Caluseriu, Connie Fung On Yee, Tawfeg Ben-Omran, Louisa A Delaney, Sonja A. de Munnik, Isabel Cordeiro, Margo L. Whiteford, Alexander Hoischen, Luiza Silveira Lucas, Bruna Santos da Cunha, Chandree L. Beaulieu, Rebecca L. Hood, Yvonne M C Hendriks, David R. FitzPatrick, Susan Price, Engela Honey, Edwin P. Kirk, Sarah M. Nikkel, Jan M. Wit, Daniela T. Pilz, I. Karen Temple, Lies H. Hoefsloot
Publikováno v:
Orphanet Journal of Rare Diseases, 8. BioMed Central Ltd.
Orphanet journal of rare diseases, 8:63. BMC
Nikkel, Sarah M; Dauber, Andrew; de Munnik, Sonja; Connolly, Meghan; Hood, Rebecca L; Caluseriu, Oana; et al.(2013). The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet Journal of Rare Diseases, 8(1), 63. doi: http://dx.doi.org/10.1186/1750-1172-8-63. Retrieved from: http://www.escholarship.org/uc/item/6r91w5r2
Orphanet Journal of Rare Diseases
Nikkel, S M, Dauber, A, de Munnik, S, Connolly, M, Hood, R L, Caluseriu, O, Hurst, J, Kini, U, Nowaczyk, M J M, Afenjar, A, Albrecht, B, Allanson, J E, Balestri, P, Ben-Omran, T, Brancati, F, Cordeiro, I, da Cunha, B S, Delaney, L A, Destree, A, FitzPatrick, D, Forzano, F, Ghali, N, Gillies, G, Harwood, K, Hendriks, Y M C, Heron, D, Hoischen, A, Honey, E M, Hoefsloot, L H, Ibrahim, J, Jacob, C M, Kant, S G, Kim, C A, Kirk, E P, Knoers, N V A M, Lacombe, D, Lee, C, Lo, I F M, Lucas, L S, Mari, F, Mericq, V, Moilanen, J S, Moller, S T, Moortgat, S, Pilz, D T, Pope, K, Price, S, Renieri, A, de Sa, J, Schoots, J, Silveira, E L, Simon, M E H, Slavotinek, A, Temple, I K, van der Burgt, I, de Vries, B B A, Weisfeld-Adams, J D, Whiteford, M L, Wierczorek, D, Wit, J M, Yee, C F O, Beaulieu, C L, White, S M, Bulman, D E, Bongers, E, Brunner, H, Feingold, M & Boycott, K M 2013, ' The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP ', Orphanet Journal of Rare Diseases, vol. 8, 63 . https://doi.org/10.1186/1750-1172-8-63
Orphanet Journal of Rare Diseases, 8:63. BioMed Central
Orphanet Journal of Rare Diseases, 8
Nikkel, S M, Dauber, A, de Munnik, S, Connolly, M, Hood, R L, Caluseriu, O, Hurst, J, Kini, U, Nowaczyk, M J, Afenjar, A, Albrecht, B, Allanson, J E, Balestri, P, Ben-Omran, T, Brancati, F, Cordeiro, I, da Cunha, B S, Delaney, L A, Destrée, A, Fitzpatrick, D, Forzano, F, Ghali, N, Gillies, G, Harwood, K, Hendriks, Y M, Héron, D, Hoischen, A, Honey, E M, Hoefsloot, L H, Ibrahim, J, Jacob, C M, Kant, S G, Kim, C A, Kirk, E P, Knoers, N V, Lacombe, D, Lee, C, Lo, I F, Lucas, L S, Mari, F, Mericq, V, Moilanen, J S, Møller, S T, Moortgat, S, Pilz, D T, Pope, K, Price, S, Renieri, A, Sá, J, Schoots, J, Silveira, E L, Simon, M E, Slavotinek, A, Temple, I K, van der Burgt, I, de Vries, B B, Weisfeld-Adams, J D, Whiteford, M L, Wierczorek, D, Wit, J M, Yee, C F, Beaulieu, C L, White, S M, Bulman, D E, Bongers, E, Brunner, H, Feingold, M & Boycott, K M 2013, ' The phenotype of floating-harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP ', Orphanet journal of rare diseases, vol. 8, no. 1, pp. 63 . https://doi.org/10.1186/1750-1172-8-63
Orphanet journal of rare diseases, 8:63. BMC
Nikkel, Sarah M; Dauber, Andrew; de Munnik, Sonja; Connolly, Meghan; Hood, Rebecca L; Caluseriu, Oana; et al.(2013). The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet Journal of Rare Diseases, 8(1), 63. doi: http://dx.doi.org/10.1186/1750-1172-8-63. Retrieved from: http://www.escholarship.org/uc/item/6r91w5r2
Orphanet Journal of Rare Diseases
Nikkel, S M, Dauber, A, de Munnik, S, Connolly, M, Hood, R L, Caluseriu, O, Hurst, J, Kini, U, Nowaczyk, M J M, Afenjar, A, Albrecht, B, Allanson, J E, Balestri, P, Ben-Omran, T, Brancati, F, Cordeiro, I, da Cunha, B S, Delaney, L A, Destree, A, FitzPatrick, D, Forzano, F, Ghali, N, Gillies, G, Harwood, K, Hendriks, Y M C, Heron, D, Hoischen, A, Honey, E M, Hoefsloot, L H, Ibrahim, J, Jacob, C M, Kant, S G, Kim, C A, Kirk, E P, Knoers, N V A M, Lacombe, D, Lee, C, Lo, I F M, Lucas, L S, Mari, F, Mericq, V, Moilanen, J S, Moller, S T, Moortgat, S, Pilz, D T, Pope, K, Price, S, Renieri, A, de Sa, J, Schoots, J, Silveira, E L, Simon, M E H, Slavotinek, A, Temple, I K, van der Burgt, I, de Vries, B B A, Weisfeld-Adams, J D, Whiteford, M L, Wierczorek, D, Wit, J M, Yee, C F O, Beaulieu, C L, White, S M, Bulman, D E, Bongers, E, Brunner, H, Feingold, M & Boycott, K M 2013, ' The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP ', Orphanet Journal of Rare Diseases, vol. 8, 63 . https://doi.org/10.1186/1750-1172-8-63
Orphanet Journal of Rare Diseases, 8:63. BioMed Central
Orphanet Journal of Rare Diseases, 8
Nikkel, S M, Dauber, A, de Munnik, S, Connolly, M, Hood, R L, Caluseriu, O, Hurst, J, Kini, U, Nowaczyk, M J, Afenjar, A, Albrecht, B, Allanson, J E, Balestri, P, Ben-Omran, T, Brancati, F, Cordeiro, I, da Cunha, B S, Delaney, L A, Destrée, A, Fitzpatrick, D, Forzano, F, Ghali, N, Gillies, G, Harwood, K, Hendriks, Y M, Héron, D, Hoischen, A, Honey, E M, Hoefsloot, L H, Ibrahim, J, Jacob, C M, Kant, S G, Kim, C A, Kirk, E P, Knoers, N V, Lacombe, D, Lee, C, Lo, I F, Lucas, L S, Mari, F, Mericq, V, Moilanen, J S, Møller, S T, Moortgat, S, Pilz, D T, Pope, K, Price, S, Renieri, A, Sá, J, Schoots, J, Silveira, E L, Simon, M E, Slavotinek, A, Temple, I K, van der Burgt, I, de Vries, B B, Weisfeld-Adams, J D, Whiteford, M L, Wierczorek, D, Wit, J M, Yee, C F, Beaulieu, C L, White, S M, Bulman, D E, Bongers, E, Brunner, H, Feingold, M & Boycott, K M 2013, ' The phenotype of floating-harbor syndrome : clinical characterization of 52 individuals with mutations in exon 34 of SRCAP ', Orphanet journal of rare diseases, vol. 8, no. 1, pp. 63 . https://doi.org/10.1186/1750-1172-8-63
Background Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delays in expressive language, and a distinctive facial appearance. Recently, heterozygous truncating mutations in SRCAP were determined to be disease-causi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8020c2947f5f65e481e8e6f61976743b
https://research.rug.nl/en/publications/1c6f03b4-d419-4e98-a16e-4ec7fceeaa41
https://research.rug.nl/en/publications/1c6f03b4-d419-4e98-a16e-4ec7fceeaa41
Autor:
Myriam Oufadem, Erica H. Gerkes, Lina Basel-Vanagaite, Adila Al-Kindy, Philippe Pellerin, Jean-Paul Bonnefont, Arnold Munnich, Peter M. Kroisel, Véronique Abadie, Angela E. Lin, Vincent Couloigner, Leonard B. Kaban, Brigitte A. Meijer, Paul Aurora, Stanislas Lyonnet, Maria Bitner-Glindzicz, S. Pierrot, Muriel Holder-Espinasse, David Kilner, Christopher T. Gordon, Ruth McGowan, Michael R. Speicher, Louise C. Wilson, Jeanne Amiel, Eya Ben Bdira, Françoise Denoyelle, Yves Manach, Florence Petit, Alex Henderson, Bruno Delobel, Mateo Sanchis-Borja, Alice Vuillot, Birgit Sikkema-Raddatz, Linda P. Jakobsen, Edward S. Tobias, Sarah S. Park, Sandrine Marlin, Marie Simon, M.-P. Vazquez, Asma Omarjee, C. Rotky-Fast, Alison Stewart, Yvonne M C Hendriks, Rodger Palmer, Sylvain Breton, Sixto García-Miñaur, Michael L. Cunningham, Pernille Lindholm
Publikováno v:
Journal of Medical Genetics, 50(3), 174-186. BMJ Publishing Group
Gordon, C T, Vuillot, A, Marlin, S, Gerkes, E, Henderson, A, AlKindy, A, Holder-Espinasse, M, Park, S S, Omarjee, A, Sanchis-Borja, M, Ben Bdira, E, Oufadem, M, Sikkema-Raddatz, B, Stewart, A, Palmer, R, McGowan, R, Petit, F, Delobel, B, Speicher, M R, Aurora, P, Kilner, D, Pellerin, P, Simon, M, Bonnefont, J P, Tobias, E S, Garcia-Minaur, S, Bitner-Glindzicz, M, Lindholm, P, Meijer, B A, Abadie, V, Denoyelle, F, Vazquez, M P, Rotky-Fast, C, Couloigner, V, Pierrot, S, Manach, Y, Breton, S, Hendriks, Y M C, Munnich, A, Jakobsen, L, Kroisel, P, Lin, A, Kaban, L B, Basel-Vanagaite, L, Wilson, L, Cunningham, M L, Lyonnet, S & Amiel, J 2013, ' Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome ', Journal of Medical Genetics, vol. 50, no. 3, pp. 174-186 . https://doi.org/10.1136/jmedgenet-2012-101331
JOURNAL OF MEDICAL GENETICS, 50(3), 174-186. BMJ PUBLISHING GROUP
Gordon, C T, Vuillot, A, Marlin, S, Gerkes, E, Henderson, A, AlKindy, A, Holder-Espinasse, M, Park, S S, Omarjee, A, Sanchis-Borja, M, Ben Bdira, E, Oufadem, M, Sikkema-Raddatz, B, Stewart, A, Palmer, R, McGowan, R, Petit, F, Delobel, B, Speicher, M R, Aurora, P, Kilner, D, Pellerin, P, Simon, M, Bonnefont, J P, Tobias, E S, Garcia-Minaur, S, Bitner-Glindzicz, M, Lindholm, P, Meijer, B A, Abadie, V, Denoyelle, F, Vazquez, M P, Rotky-Fast, C, Couloigner, V, Pierrot, S, Manach, Y, Breton, S, Hendriks, Y M C, Munnich, A, Jakobsen, L, Kroisel, P, Lin, A, Kaban, L B, Basel-Vanagaite, L, Wilson, L, Cunningham, M L, Lyonnet, S & Amiel, J 2013, ' Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome ', Journal of Medical Genetics, vol. 50, no. 3, pp. 174-186 . https://doi.org/10.1136/jmedgenet-2012-101331
JOURNAL OF MEDICAL GENETICS, 50(3), 174-186. BMJ PUBLISHING GROUP
Background Auriculocondylar syndrome (ACS) is a rare craniofacial disorder consisting of micrognathia, mandibular condyle hypoplasia and a specific malformation of the ear at the junction between the lobe and helix. Missense heterozygous mutations in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af707ccd203f73f963834d0807db89a6
https://research.vumc.nl/en/publications/d0c8f8ee-8a2a-4099-9c2a-3db0c2a9dd06
https://research.vumc.nl/en/publications/d0c8f8ee-8a2a-4099-9c2a-3db0c2a9dd06
