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The utility of obesity polygenic risk scores from research to clinical practice: A review.
Published in:
Obesity Reviews, 2024, v. 25, n. 11, p. 1, doi. 10.1111/obr.13810
By:
- Jansen, Philip R.;
- Vos, Niels;
- van Uhm, Jorrit;
- Dekkers, Ilona A.;
- van der Meer, Rieneke;
- Mannens, Marcel M. A. M.;
- van Haelst, Mieke M.
Publication type:
Article
Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy.
Published in:
Pediatric Nephrology, 2018, v. 33, n. 10, p. 1701, doi. 10.1007/s00467-018-3958-7
By:
- Stokman, Marijn F.;
- van der Zwaag, Bert;
- van de Kar, Nicole C. A. J.;
- van Haelst, Mieke M.;
- van Eerde, Albertien M.;
- van der Heijden, Joost W.;
- Kroes, Hester Y.;
- Ippel, Elly;
- Schulp, Annelien J. A.;
- van Gassen, Koen L.;
- van Rooij, Iris A. L. M.;
- Giles, Rachel H.;
- Beales, Philip L.;
- Roepman, Ronald;
- Arts, Heleen H.;
- Bongers, Ernie M. H. F.;
- Renkema, Kirsten Y.;
- Knoers, Nine V. A. M.;
- van Reeuwijk, Jeroen;
- Lilien, Marc R.
Publication type:
Article
The Narrative of a Patient with Leptin Receptor Deficiency: Personalized Medicine for a Rare Genetic Obesity Disorder.
Published in:
Obesity Facts: The European Journal of Obesity, 2023, v. 16, n. 5, p. 514, doi. 10.1159/000531529
By:
- Welling, Mila S.;
- Kleinendorst, Lotte;
- van Haelst, Mieke M.;
- van den Akker, Erica L.T.
Publication type:
Article
Extensive Phenotyping for Potential Weight-Inducing Factors in an Outpatient Population with Obesity.
Published in:
Obesity Facts: The European Journal of Obesity, 2019, v. 12, n. 4, p. 369, doi. 10.1159/000499978
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.
Publication type:
Article
Clinical phenotypes of adults with monogenic and syndromic genetic obesity.
Published in:
Obesity (19307381), 2024, v. 32, n. 7, p. 1257, doi. 10.1002/oby.24047
By:
- Welling, Mila S.;
- Mohseni, Mostafa;
- Meeusen, Renate E. H.;
- de Groot, Cornelis J.;
- Boon, Mariëtte R.;
- Kleinendorst, Lotte;
- Visser, Jenny A.;
- van Haelst, Mieke M.;
- van den Akker, Erica L. T.;
- van Rossum, Elisabeth F. C.
Publication type:
Article
Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain.
Published in:
Biomolecules (2218-273X), 2020, v. 10, n. 9, p. 1314, doi. 10.3390/biom10091314
By:
- Coban, Mathew A.;
- Blackburn, Patrick R.;
- Whitelaw, Murray L.;
- Haelst, Mieke M. van;
- Atwal, Paldeep S.;
- Caulfield, Thomas R.
Publication type:
Article
A comprehensive diagnostic approach to detect underlying causes of obesity in adults.
Published in:
Obesity Reviews, 2019, v. 20, n. 6, p. 795, doi. 10.1111/obr.12836
By:
- Valk, Eline S.;
- Akker, Erica L.T.;
- Savas, Mesut;
- Kleinendorst, Lotte;
- Visser, Jenny A.;
- Van Haelst, Mieke M.;
- Sharma, Arya M.;
- Rossum, Elisabeth F.C.
Publication type:
Article
GMDS Intragenic Deletions Associate with Congenital Heart Disease including Ebstein Anomaly.
Published in:
Cardiogenetics, 2023, v. 13, n. 3, p. 106, doi. 10.3390/cardiogenetics13030010
By:
- Lo-A-Njoe, Shirley M.;
- Verberne, Eline A.;
- van der Veken, Lars T.;
- Arends, Eric;
- van Tintelen, J. Peter;
- Postma, Alex V.;
- van Haelst, Mieke M.
Publication type:
Article
Further delineation of the KBG syndrome caused by ANKRD11 aberrations.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1270, doi. 10.1038/ejhg.2015.130
By:
- 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
Publication type:
Article
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1176, doi. 10.1038/ejhg.2014.253
By:
- 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
Publication type:
Article
Further confirmation of the MED13L haploinsufficiency syndrome.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 1, p. 135, doi. 10.1038/ejhg.2014.69
By:
- van Haelst, Mieke M;
- Monroe, Glen R;
- Duran, Karen;
- van Binsbergen, Ellen;
- Breur, Johannes M;
- Giltay, Jacques C;
- van Haaften, Gijs
Publication type:
Article
Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.
Published in:
European Journal of Human Genetics, 2013, v. 21, n. 1, p. 55, doi. 10.1038/ejhg.2012.117
By:
- Baas, Annette F;
- Gabbett, Michael;
- Rimac, Milan;
- Kansikas, Minttu;
- Raphael, Martine;
- Nievelstein, Rutger AJ;
- Nicholls, Wayne;
- Offerhaus, Johan;
- Bodmer, Danielle;
- Wernstedt, Annekatrin;
- Krabichler, Birgit;
- Strasser, Ulrich;
- Nyström, Minna;
- Zschocke, Johannes;
- Robertson, Stephen P;
- van Haelst, Mieke M;
- Wimmer, Katharina
Publication type:
Article
Prevalence of congenital anomalies in the Dutch Caribbean islands of Aruba, Bonaire, and Curaçao.
Published in:
Birth Defects Research, 2023, v. 115, n. 6, p. 595, doi. 10.1002/bdr2.2153
By:
- Verberne, Eline A.;
- Lo-A-Njoe, Shirley M.;
- van Ginkel, Manon;
- Zwolsman, Jet;
- Nikkels, Sylke;
- Clement, Lauren;
- de Vroomen, Maartje;
- Wever, Maria L. G.;
- Arends, Eric;
- Holtsema, Hilda;
- Hajenius, Petra J.;
- Moreta, Daphne;
- Ecury-Goossen, Ginette M.;
- Mannens, Marcel M. A. M.;
- de Walle, Hermien E. K.;
- Bergman, Jorieke E. H.;
- van Haelst, Mieke M.
Publication type:
Article
Genetic analysis in the bariatric clinic; impact of a PTEN gene mutation.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.632
By:
- Cooiman, Mellody I.;
- Kleinendorst, Lotte;
- Zwaag, Bert;
- Janssen, Ignace M. C.;
- Berends, Frits J.;
- van Haelst, Mieke M.
Publication type:
Article
The Diagnostic Journey of a Patient with Prader–Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature.
Published in:
Genes, 2021, v. 13, n. 6, p. 875, doi. 10.3390/genes12060875
By:
- Pellikaan, Karlijn;
- van Woerden, Geeske M.;
- Kleinendorst, Lotte;
- Rosenberg, Anna G. W.;
- Horsthemke, Bernhard;
- Grosser, Christian;
- van Zutven, Laura J. C. M.;
- van Rossum, Elisabeth F. C.;
- van der Lely, Aart J.;
- Resnick, James L.;
- Brüggenwirth, Hennie T.;
- van Haelst, Mieke M.;
- de Graaff, Laura C. G.
Publication type:
Article
Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center.
Published in:
2020
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.
Publication type:
Correction Notice
Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center.
Published in:
PLoS ONE, 2020, v. 15, n. 5, p. 1, doi. 10.1371/journal.pone.0232990
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.
Publication type:
Article
Bariatric Surgery for Monogenic Non-syndromic and Syndromic Obesity Disorders.
Published in:
2020
By:
- Vos, Niels;
- Oussaada, Sabrina M.;
- Cooiman, Mellody I.;
- Kleinendorst, Lotte;
- ter Horst, Kasper W.;
- Hazebroek, Eric J.;
- Romijn, Johannes A.;
- Serlie, Mireille J.;
- Mannens, Marcel M. A. M.;
- van Haelst, Mieke M.
Publication type:
journal article
MC4R Variants Modulate α-MSH and Setmelanotide Induced Cellular Signaling at Multiple Levels.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 10, p. 2452, doi. 10.1210/clinem/dgae210
By:
- Rondón, Alejandra V Rodríguez;
- Welling, Mila S;
- Akker, Erica L T van den;
- Rossum, Elisabeth F C van;
- Boon, Elles M J;
- Haelst, Mieke M van;
- Delhanty, Patric J D;
- Visser, Jenny A
Publication type:
Article
STXBP1 Syndrome Is Characterized by Inhibition-Dominated Dynamics of Resting-State EEG.
Published in:
Frontiers in Physiology, 2021, v. 12, p. 1, doi. 10.3389/fphys.2021.775172
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
Publication type:
Article
GNB1 and obesity: Evidence for a correlation between haploinsufficiency and syndromic obesity.
Published in:
Clinical Obesity, 2024, v. 14, n. 4, p. 1, doi. 10.1111/cob.12661
By:
- Kleinendorst, Lotte;
- Abawi, Ozair;
- Vos, Niels;
- van der Valk, Eline S.;
- Maas, Saskia M.;
- Morgan, Angela T.;
- Hildebrand, Michael S.;
- Da Silva, Jorge D.;
- Florijn, Ralph J.;
- Lauffer, Peter;
- Visser, Jenny A.;
- van Rossum, Elisabeth F. C.;
- van den Akker, Erica L. T.;
- van Haelst, Mieke M.
Publication type:
Article
Effects of glucagon‐like peptide‐1 analogue treatment in genetic obesity: A case series.
Published in:
Clinical Obesity, 2021, v. 11, n. 6, p. 1, doi. 10.1111/cob.12481
By:
- Welling, Mila S.;
- de Groot, Cornelis J.;
- Kleinendorst, Lotte;
- van der Voorn, Bibian;
- Burgerhart, Jan Steven;
- van der Valk, Eline S.;
- van Haelst, Mieke M.;
- van den Akker, Erica L. T.;
- van Rossum, Elisabeth F. C.
Publication type:
Article
Personalized medicine for rare neurogenetic disorders: can we make it happen?
Published in:
Cold Spring Harbor Molecular Case Studies, 2022, v. 8, n. 2, p. 1, doi. 10.1101/mcs.a006200
By:
- van Eeghen, Agnies M.;
- Bruining, Hilgo;
- Wolf, Nicole I.;
- Bergen, Arthur A.;
- Houtkooper, Riekelt H.;
- van Haelst, Mieke M.;
- van Karnebeek, Clara D.
Publication type:
Article
De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies.
Published in:
Case Reports in Genetics, 2016, p. 1, doi. 10.1155/2016/2861653
By:
- Lo-A-Njoe, Shirley;
- van der Veken, Lars T.;
- Vermont, Clementien;
- Rafael-Croes, Louise;
- Keizer, Vincent;
- Hochstenbach, Ron;
- Knoers, Nine;
- van Haelst, Mieke M.
Publication type:
Article
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
Published in:
Human Molecular Genetics, 2016, v. 25, n. 11, p. 2158, doi. 10.1093/hmg/ddw082
By:
- Josifova, Dragana J.;
- Monroe, Glen R.;
- Tessadori, Federico;
- Graaff, Esther de;
- van der Zwaag2, Bert;
- Mehta, Sarju G.;
- Harakalova, Magdalena;
- Duran, Karen J.;
- Savelberg, Sanne M.C.;
- Nijman, Isaäc J.;
- Jungbluth, Heinz;
- Hoogenraad, Casper C.;
- Bakkers, Jeroen;
- Knoers, Nine V.;
- Firth, Helen V.;
- Beales, Philip L.;
- Haaften, Gijs van;
- van Haelst, Mieke M.
Publication type:
Article
A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism.
Published in:
Human Molecular Genetics, 2009, v. 18, n. 17, p. 3257, doi. 10.1093/hmg/ddp263
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.
Publication type:
Article
Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism.
Published in:
PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0131417
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.
Publication type:
Article
Long-Term Weight Outcome After Bariatric Surgery in Patients with Melanocortin-4 Receptor Gene Variants: a Case–Control Study of 105 Patients.
Published in:
Obesity Surgery, 2022, v. 32, n. 3, p. 837, doi. 10.1007/s11695-021-05869-x
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.
Publication type:
Article
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.
Published in:
Nature Genetics, 2004, v. 36, n. 9, p. 989, doi. 10.1038/ng1414
By:
- 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;
- Davidson, William S.;
- Leroux, Michel R.
Publication type:
Article
Functional Analysis of the SIM1 Variant p.G715V in 2 Patients With Obesity.
Published in:
2019
By:
- Blackburn, Patrick R;
- Sullivan, Adrienne E;
- Gerassimou, Alexis G;
- Kleinendorst, Lotte;
- Bersten, David C;
- Cooiman, Mellody;
- Harris, Kimberly G;
- Wierenga, Klaas J;
- Klee, Eric W;
- van Gerpen, Jay A;
- Ross, Owen A;
- van Haelst, Mieke M;
- Whitelaw, Murray L;
- Caulfield, Thomas R;
- Atwal, Paldeep S
Publication type:
journal article
Resting Energy Expenditure and Body Composition in Children and Adolescents With Genetic, Hypothalamic, Medication-Induced or Multifactorial Severe Obesity.
Published in:
Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.862817
By:
- Abawi, Ozair;
- Koster, Emma C.;
- Welling, Mila S.;
- Boeters, Sanne C. M.;
- van Rossum, Elisabeth F. C.;
- van Haelst, Mieke M.;
- van der Voorn, Bibian;
- de Groot, Cornelis J.;
- van den Akker, Erica L. T.
Publication type:
Article
PDE3A gene screening improves diagnostics for patients with Bilginturan syndrome (hypertension and brachydactyly syndrome)
Published in:
Hypertension Research, 2018, v. 41, n. 11, p. 981, doi. 10.1038/s41440-018-0094-5
By:
- Renkema, Kirsten Y.;
- Westermann, Jonne M.;
- Nievelstein, Rutger A. J.;
- Lo-A-Njoe, Shirley M.;
- van der Zwaag, Bert;
- Manshande, Meindert E.;
- van Haelst, Mieke M.
Publication type:
Article
Mirror Hand Movements Caused by a Deletion of the DCC Gene.
Published in:
JAMA Neurology, 2024, v. 81, n. 2, p. 187, doi. 10.1001/jamaneurol.2023.4563
By:
- Kleinendorst, Lotte;
- van Haelst, Mieke M.
Publication type:
Article
Severe early‐onset overgrowth in a case of pseudohypoparathyroidism type 1b, caused by STX16 deletion.
Published in:
American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1476, doi. 10.1002/ajmg.a.63154
By:
- Vos, Niels;
- Menke, Leonie A.;
- Mooij, Christiaan F.;
- van den Akker, Erica L. T.;
- Alders, Mariëlle;
- van Haelst, Mieke M.
Publication type:
Article
The role of obesity in the fatal outcome of Schaaf–Yang syndrome: Early onset morbid obesity in a patient with a MAGEL2 mutation.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 11, p. 2456, doi. 10.1002/ajmg.a.40486
By:
- Kleinendorst, Lotte;
- Pi Castán, Graciela;
- Caro‐Llopis, Alfonso;
- Boon, Elles M. J.;
- van Haelst, Mieke M.
Publication type:
Article
Macrosomia, obesity, and macrocephaly as first clinical presentation of PHP1b caused by STX16 deletion.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2431, doi. 10.1002/ajmg.a.37818
By:
- de Lange, Iris M.;
- Verrijn Stuart, Annemarie A.;
- van der Luijt, Rob B.;
- Ploos van Amstel, Hans Kristian;
- van Haelst, Mieke M.
Publication type:
Article
De novo 14q24.2q24.3 microdeletion including IFT43 is associated with intellectual disability, skeletal anomalies, cardiac anomalies, and myopia.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 6, p. 1566, doi. 10.1002/ajmg.a.37598
By:
- Stokman, Marijn F.;
- Oud, Machteld M.;
- van Binsbergen, Ellen;
- Slaats, Gisela G.;
- Nicolaou, Nayia;
- Renkema, Kirsten Y.;
- Nijman, Isaac J.;
- Roepman, Ronald;
- Giles, Rachel H.;
- Arts, Heleen H.;
- Knoers, Nine V. A. M.;
- van Haelst, Mieke M.
Publication type:
Article
Expanding the spectrum of phenotypes associated with germline PIGA mutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 29, doi. 10.1002/ajmg.a.36184
By:
- van der Crabben, Saskia N.;
- Harakalova, Magdalena;
- Brilstra, Eva H.;
- van Berkestijn, Frédérique M.C.;
- Hofstede, Floris C.;
- van Vught, Adrianus J.;
- Cuppen, Edwin;
- Kloosterman, Wigard;
- Ploos van Amstel, Hans Kristian;
- van Haaften, Gijs;
- van Haelst, Mieke M.
Publication type:
Article
A fetus with de novo 2q33.2q35 deletion including MAP2 with brain anomalies, esophageal atresia, and laryngeal stenosis.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 194, doi. 10.1002/ajmg.a.36202
By:
- van Binsbergen, Ellen;
- Ellis, Richard J.;
- Abdelmalik, Nadia;
- Jarvis, Joanna;
- Randhawa, Kashmir;
- Wyatt‐Ashmead, Josephine;
- Canham, Natalie;
- Thorpe‐Beeston, J Guy;
- Mancini, Grazia M.S.;
- Van Haelst, Mieke M.
Publication type:
Article
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders.
Published in:
American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3012, doi. 10.1002/ajmg.a.36119
By:
- Schanze, Denny;
- Harakalova, Magdalena;
- Stevens, Cathy A.;
- Brancati, Francesco;
- Dallapiccola, Bruno;
- Farndon, Peter;
- Ferraz, Victor E. F.;
- McDonald‐McGinn, Donna M.;
- Zackai, Elaine H.;
- Wright, Michael;
- van Lieshout, Stef;
- Vogel, Maartje J.;
- van Haelst, Mieke M.;
- Zenker, Martin
Publication type:
Article
Ablepharon-Macrostomia syndrome-Extension of the phenotype.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3060, doi. 10.1002/ajmg.a.34287
By:
- Kallish, Staci;
- McDonald-McGinn, Donna M.;
- van Haelst, Mieke M.;
- Bartlett, Scott P.;
- Katowitz, James A.;
- Zackai, Elaine H.
Publication type:
Article
Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 5, p. 1192, doi. 10.1002/ajmg.a.33986
By:
- de Smith, Adam J.;
- van Haelst, Mieke M.;
- Ellis, Richard J.;
- Holder, Susan E.;
- Payne, Stewart J.;
- Hashim, Sugera K.;
- Froguel, Philippe;
- Blakemore, Alexandra I.F.
Publication type:
Article
Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder.
Published in:
2017
By:
- Lipstein, Noa;
- Verhoeven-Duif, Nanda M.;
- Michelassi, Francesco E.;
- Calloway, Nathaniel;
- van Hasselt, Peter M.;
- Pienkowska, Katarzyna;
- van Haaften, Gijs;
- van Haelst, Mieke M.;
- van Empelen, Ron;
- Cuppen, Inge;
- van Teeseling, Heleen C.;
- Evelein, Annemieke M. V.;
- Vorstman, Jacob A.;
- Thoms, Sven;
- Jahn, Olaf;
- Duran, Karen J.;
- Monroe, Glen R.;
- Ryan, Timothy A.;
- Taschenberger, Holger;
- Dittman, Jeremy S.
Publication type:
journal article
Do we care? Reporting of genetic diagnoses in multidisciplinary intellectual disability care: a retrospective chart review.
Published in:
Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03323-6
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.
Publication type:
Article
Leptin receptor deficiency: a systematic literature review and prevalence estimation based on population genetics.
Published in:
European Journal of Endocrinology, 2020, v. 182, n. 1, p. 47, doi. 10.1530/EJE-19-0678
By:
- Kleinendorst, Lotte;
- Abawi, Ozair;
- van der Kamp, Hetty J.;
- Alders, Mariëlle;
- Meijers-Heijboer, Hanne E. J.;
- van Rossum, Elisabeth F. C.;
- van den Akker, Erica L. T.;
- van Haelst, Mieke M.
Publication type:
Article
Functional Insight into and Refinement of the Genomic Boundaries of the JARID2 -Neurodevelopmental Disorder Episignature.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 18, p. 14240, doi. 10.3390/ijms241814240
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
Publication type:
Article

Found: 46