Search Results - "Van Haelst, M M"

Second case of Bardet-Biedl syndrome caused by biallelic variants in IFT74 by Kleinendorst, Lotte, Alsters, Sanne I M, Abawi, Ozair, Waisfisz, Quinten, Boon, Elles M J, van den Akker, Erica L T, van Haelst, Mieke M

“…Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder of the cilia, often resulting in a phenotype of obesity, rod-cone dystrophy, a variable…”
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Genetic Obesity and Bariatric Surgery Outcome in 1014 Patients with Morbid Obesity by Cooiman, M.I., Kleinendorst, L., Aarts, E.O., Janssen, I.M.C., van Amstel, H.K. Ploos, Blakemore, A.I., Hazebroek, E.J., Meijers-Heijboer, H.J., van der Zwaag, B., Berends, F.J., van Haelst, M.M.

“…Background Mutations in the leptin-melanocortin pathway genes are known to cause monogenic obesity. The prevalence of these gene mutations and their effect on…”
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De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review by van den Akker, W.M.R., Brummelman, I., Martis, L.M., Timmermans, R.N., Pfundt, R., Kleefstra, T., Willemsen, M.H., Gerkes, E.H., Herkert, J.C., van Essen, A.J., Rump, P., Vansenne, F., Terhal, P.A., van Haelst, M.M., Cristian, I., Turner, C.E., Cho, M.T., Begtrup, A., Willaert, R., Fassi, E., van Gassen, K.L.I., Stegmann, A.P.A., de Vries, B.B.A., Schuurs‐Hoeijmakers, J.H.M.

“…De novo variants in the gene encoding cyclin‐dependent kinase 13 (CDK13) have been associated with congenital heart defects and intellectual disability (ID)…”
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Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain by Coban, Mathew A, Blackburn, Patrick R, Whitelaw, Murray L, Haelst, Mieke M van, Atwal, Paldeep S, Caulfield, Thomas R

“…Single-minded homologue 1 (SIM1) is a transcription factor with numerous different physiological and developmental functions. SIM1 is a member of the class I…”
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Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome by Davidson, William S, Leroux, Michel R, Fan, Yanli, Esmail, Muneer A, Ansley, Stephen J, Blacque, Oliver E, Boroevich, Keith, Ross, Alison J, Moore, Susan J, Badano, Jose L, May-Simera, Helen, Compton, Deanna S, Green, Jane S, Lewis, Richard Alan, van Haelst, Mieke M, Parfrey, Patrick S, Baillie, David L, Beales, Philip L, Katsanis, Nicholas

“…RAB, ADP-ribosylation factors (ARFs) and ARF-like (ARL) proteins belong to the Ras superfamily of small GTP-binding proteins and are essential for various…”
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Effective CRISPR/Cas9-based nucleotide editing in zebrafish to model human genetic cardiovascular disorders by Tessadori, Federico, Roessler, Helen I, Savelberg, Sanne M C, Chocron, Sonja, Kamel, Sarah M, Duran, Karen J, van Haelst, Mieke M, van Haaften, Gijs, Bakkers, Jeroen

“…The zebrafish ( ) has become a popular vertebrate model organism to study organ formation and function due to its optical clarity and rapid embryonic…”
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Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center by Kleinendorst, Lotte, Abawi, Ozair, van der Voorn, Bibian, Jongejan, Mieke H T M, Brandsma, Annelies E, Visser, Jenny A, van Rossum, Elisabeth F C, van der Zwaag, Bert, Alders, Mariëlle, Boon, Elles M J, van Haelst, Mieke M, van den Akker, Erica L T

“…Underlying medical causes of obesity (endocrine disorders, genetic obesity disorders, cerebral or medication-induced obesities) are thought to be rare. Even in…”
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Extensive Phenotyping for Potential Weight-Inducing Factors in an Outpatient Population with Obesity by Savas, Mesut, Wester, Vincent L., Visser, Jenny A., Kleinendorst, Lotte, van der Zwaag, Bert, van Haelst, Mieke M., van den Akker, Erica L.T., van Rossum, Elisabeth F.C.

“…Background: Obesity has been associated with miscellaneous weight-inducing determinants. A comprehensive assessment of known obesity-related factors other than…”
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Use of Serotonergic Antidepressants and Bleeding Risk in Orthopedic Patients by VAN HAELST, Ingrid M. M, EGBERTS, Toine C. G, DOODEMAN, Hieronymus J, TRAAST, Han S, BURGER, Bart J, KALKMAN, Cor J, VAN KLEI, Wilton A

“…Selective serotonin reuptake inhibitors have been associated with an increased bleeding tendency. Information on the impact of a possible impaired hemostasis…”
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Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review by Müller, Annelieke R, Boot, Erik, Notermans, Stijn B, Schuengel, Carlo, Henneman, Lidewij, Cornel, Martina C, van Haelst, Mieke M, Alders, Mariëlle, van Karnebeek, Clara D M, Bijl, Bas, Wijburg, Frits A, van Eeghen, Agnies M

“…Advances in understanding the etiology of intellectual disability (ID) has led to insights in potential (targeted) treatments and personalized care…”
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A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism by de Smith, Adam J., Purmann, Carolin, Walters, Robin G., Ellis, Richard J., Holder, Susan E., Van Haelst, Mieke M., Brady, Angela F., Fairbrother, Una L., Dattani, Mehul, Keogh, Julia M., Henning, Elana, Yeo, Giles S.H., O'Rahilly, Stephen, Froguel, Philippe, Farooqi, I. Sadaf, Blakemore, Alexandra I.F.

“…Genetic studies in patients with severe early-onset obesity have provided insights into the molecular and physiological pathways that regulate body weight in…”
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Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism by Alsters, Suzanne I M, Goldstone, Anthony P, Buxton, Jessica L, Zekavati, Anna, Sosinsky, Alona, Yiorkas, Andrianos M, Holder, Susan, Klaber, Robert E, Bridges, Nicola, van Haelst, Mieke M, le Roux, Carel W, Walley, Andrew J, Walters, Robin G, Mueller, Michael, Blakemore, Alexandra I F

“…Carboxypeptidase E is a peptide processing enzyme, involved in cleaving numerous peptide precursors, including neuropeptides and hormones involved in appetite…”
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Functional Insight into and Refinement of the Genomic Boundaries of the JARID2-Neurodevelopmental Disorder Episignature by van der Laan, Liselot, Rooney, Kathleen, Haghshenas, Sadegheh, Silva, Ananília, McConkey, Haley, Relator, Raissa, Levy, Michael A., Valenzuela, Irene, Trujillano, Laura, Lasa-Aranzasti, Amaia, Campos, Berta, Castells, Neus, Verberne, Eline A., Maas, Saskia, Alders, Mariëlle, Mannens, Marcel M. A. M., van Haelst, Mieke M., Sadikovic, Bekim, Henneman, Peter

“…JARID2 (Jumonji, AT-rich interactive domain 2) haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome. It is characterized by…”
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DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome by Verberne, Eline A., van der Laan, Liselot, Haghshenas, Sadegheh, Rooney, Kathleen, Levy, Michael A., Alders, Mariëlle, Maas, Saskia M., Jansen, Sandra, Lieden, Agne, Anderlid, Britt-Marie, Rafael-Croes, Louise, Campeau, Philippe M., Chaudhry, Ayeshah, Koolen, David A., Pfundt, Rolph, Hurst, Anna C. E., Tran-Mau-Them, Frederic, Bruel, Ange-Line, Lambert, Laetitia, Isidor, Bertrand, Mannens, Marcel M. A. M., Sadikovic, Bekim, Henneman, Peter, van Haelst, Mieke M.

“…JARID2 (Jumonji, AT Rich Interactive Domain 2) pathogenic variants cause a neurodevelopmental syndrome, that is characterized by developmental delay, cognitive…”
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Epigenotype-phenotype correlations in Silver-Russell syndrome by Wakeling, E L, Amero, S Abu, Alders, M, Bliek, J, Forsythe, E, Kumar, S, Lim, D H, MacDonald, F, Mackay, D J, Maher, E R, Moore, G E, Poole, R L, Price, S M, Tangeraas, T, Turner, C L S, Van Haelst, M M, Willoughby, C, Temple, I K, Cobben, J M

“…Silver-Russell syndrome (SRS) is characterised by intrauterine growth restriction, poor postnatal growth, relative macrocephaly, triangular face and asymmetry…”
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The Narrative of a Patient with Leptin Receptor Deficiency: Personalized Medicine for a Rare Genetic Obesity Disorder by Welling, Mila S., Kleinendorst, Lotte, van Haelst, Mieke M., van den Akker, Erica L.T.

“…Leptin receptor (LEPR) deficiency is a rare genetic disorder that affects the body’s ability to regulate appetite and weight. For patients and their families,…”
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STXBP1 Syndrome Is Characterized by Inhibition-Dominated Dynamics of Resting-State EEG by Houtman, Simon J, Lammertse, Hanna C A, van Berkel, Annemiek A, Balagura, Ganna, Gardella, Elena, Ramautar, Jennifer R, Reale, Chiara, Møller, Rikke S, Zara, Federico, Striano, Pasquale, Misra-Isrie, Mala, van Haelst, Mieke M, Engelen, Marc, van Zuijen, Titia L, Mansvelder, Huibert D, Verhage, Matthijs, Bruining, Hilgo, Linkenkaer-Hansen, Klaus

“…syndrome is a rare neurodevelopmental disorder caused by heterozygous variants in the gene and is characterized by psychomotor delay, early-onset developmental…”
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Further confirmation of the MED13L haploinsufficiency syndrome by van Haelst, Mieke M, Monroe, Glen R, Duran, Karen, van Binsbergen, Ellen, Breur, Johannes M, Giltay, Jacques C, van Haaften, Gijs

“…MED13L haploinsufficiency syndrome has been described in two patients and is characterized by moderate intellectual disability (ID), conotruncal heart defects,…”
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Who ever heard of 16p11.2 deletion syndrome? Parents' perspectives on a susceptibility copy number variation syndrome by Kleinendorst, Lotte, van den Heuvel, Lieke M, Henneman, Lidewij, van Haelst, Mieke M

“…Chromosomal microarray analysis is an important diagnostic tool to identify copy number variations (CNV). Some of the CNVs affect susceptibility regions, which…”
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Long-Term Weight Outcome After Bariatric Surgery in Patients with Melanocortin-4 Receptor Gene Variants: a Case–Control Study of 105 Patients by Cooiman, Mellody I., Alsters, Suzanne I. M., Duquesnoy, Maeva, Hazebroek, Eric J., Meijers-Heijboer, Hanne J., Chahal, Harvinder, Le Beyec-Le Bihan, Johanne, Clément, Karine, Soula, Hedi, Blakemore, Alex I., Poitou, Christine, van Haelst, Mieke M.

“…Introduction Pathogenic heterozygous MC4R variants are associated with hyperphagia and variable degrees of obesity. Several research groups have reported…”
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