OpenURL Connection Search

Select item for more details and to access through your institution.

Associations Between Fatigue and Endocrine and Non- endocrine Health Problems in Turner Syndrome: Cohort Study and Review.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 12, p. e1649, doi. 10.1210/clinem/dgad337
By:
- Rosenberg, Anna G. W.;
- Dingemans, Veerle D. A.;
- Bos-Roubos, Anja G.;
- Luijks, Sanne;
- Dessens, Arianne B.;
- Dykgraaf, Ramon;
- Roos-Hesselink, Jolien W.;
- Van Rossum, Elisabeth F. C.;
- Van Der Lely, Aart J.;
- De Graaff, Laura C. G.
Publication type:
Article
Malignancies in Prader-Willi Syndrome: Results From a Large International Cohort and Literature Review.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 12, p. e1720, doi. 10.1210/clinem/dgad312
By:
- Pellikaan, Karlijn;
- Nguyen, Naomi Q. C.;
- Rosenberg, Anna G. W.;
- Coupaye, Muriel;
- Goldstone, Anthony P.;
- Høybye, Charlotte;
- Markovic, Tania;
- Grugni, Graziano;
- Crinò, Antonino;
- Caixàs, Assumpta;
- Poitou, Christine;
- Corripio, Raquel;
- Nieuwenhuize, Rosa M.;
- van der Lely, Aart J.;
- de Graaff, Laura C. G.
Publication type:
Article
Bone Health in Adults With Prader--Willi Syndrome: Clinical Recommendations Based on a Multicenter Cohort Study.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 1, p. 59, doi. 10.1210/clinem/dgac556
By:
- van Abswoude, Denise H.;
- Pellikaan, Karlijn;
- Rosenberg, Anna G. W.;
- Davidse, Kirsten;
- Coupaye, Muriel;
- Høybye, Charlotte;
- Markovic, Tania P.;
- Grugni, Graziano;
- Crinò, Antonino;
- Caixàs, Assumpta;
- Poitou, Christine;
- Mosbah, Helena;
- Weir, Tessa;
- van Vlimmeren, Leo A.;
- Rutges, Joost P. H. J.;
- De Klerk, Luuk W. L.;
- Zillikens, M. Carola;
- van der Lely, Aart J.;
- de Graaff, Laura C. G.
Publication type:
Article
Obesity and Hyperphagia With Increased Defective ACTH: A Novel POMC Variant.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 9, p. e3699, doi. 10.1210/clinem/dgac342
By:
- van der Valk, Eline S.;
- Kleinendorst, Lotte;
- Delhanty, Patric J. D.;
- van der Voorn, Bibian;
- Visser, Jenny A.;
- van Haelst, M. M.;
- de Graaff, Laura C. G.;
- Huisman, Martin;
- White, Anne;
- Shosuke Ito;
- Kazumasa Wakamatsu;
- de Rijke, Yolanda B.;
- van den Akker, Erica L. T.;
- Iyer, Anand M.;
- van Rossum, Elisabeth F. C.
Publication type:
Article
Growth Hormone Treatment for Adults With Prader-Willi Syndrome: A Meta-Analysis.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2021, v. 106, n. 10, p. 3068, doi. 10.1210/clinem/dgab406
By:
- Rosenberg, Anna G. W.;
- Passone, Caroline G. B.;
- Pellikaan, Karlijn;
- Damiani, Durval;
- van der Lely, Aart J.;
- Polak, Michel;
- Bernardo, Wanderley M.;
- de Graaff, Laura C. G.
Publication type:
Article
Missed Diagnoses and Health Problems in Adults With Prader-Willi Syndrome: Recommendations for Screening and Treatment.
Published in:
2020
By:
- Pellikaan, Karlijn;
- Rosenberg, Anna G. W.;
- Kattentidt-Mouravieva, Anja A.;
- Kersseboom, Rogier;
- Bos-Roubos, Anja G.;
- Veen-Roelofs, José M. C.;
- Wieringen, Nina van;
- Hoekstra, Franciska M. E.;
- van den Berg, Sjoerd A. A.;
- van der Lely, Aart Jan;
- de Graaff, Laura C. G.;
- van Wieringen, Nina
Publication type:
journal article
Central Adrenal Insufficiency Is Rare in Adults With Prader–Willi Syndrome.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2020, v. 105, n. 7, p. 1, doi. 10.1210/clinem/dgaa168
By:
- Rosenberg, Anna G. W.;
- Pellikaan, Karlijn;
- Poitou, Christine;
- Goldstone, Anthony P.;
- Høybye, Charlotte;
- Markovic, Tania;
- Grugni, Graziano;
- Crinò, Antonino;
- Caixàs, Assumpta;
- Coupaye, Muriel;
- Van Den Berg, Sjoerd A. A.;
- Van Der Lely, Aart Jan;
- De Graaff, Laura C. G.
Publication type:
Article
Central Adrenal Insufficiency Is Rare in Adults With Prader-Willi Syndrome.
Published in:
2020
By:
- Rosenberg, Anna G W;
- Pellikaan, Karlijn;
- Poitou, Christine;
- Goldstone, Anthony P;
- Høybye, Charlotte;
- Markovic, Tania;
- Grugni, Graziano;
- Crinò, Antonino;
- CaixàS, Assumpta;
- Coupaye, Muriel;
- Van Den Berg, Sjoerd A A;
- Van Der Lely, Aart Jan;
- De Graaff, Laura C G
Publication type:
journal article
Congenital hypopituitarism in two brothers with a duplication of the 'acrogigantism gene' GPR101: clinical findings and review of the literature.
Published in:
Pituitary, 2021, v. 24, n. 2, p. 229, doi. 10.1007/s11102-020-01101-8
By:
- Elizabeth, Melitza S. M.;
- Verkerk, Annemieke J. M. H.;
- Hokken-Koelega, Anita C. S.;
- Verlouw, Joost A. M.;
- Argente, Jesús;
- Pfaeffle, Roland;
- Neggers, Sebastian J. C. M. M.;
- Visser, Jenny A.;
- de Graaff, Laura C. G.
Publication type:
Article
Genetic screening of regulatory regions of pituitary transcription factors in patients with idiopathic pituitary hormone deficiencies.
Published in:
Pituitary, 2018, v. 21, n. 1, p. 76, doi. 10.1007/s11102-017-0850-6
By:
- Elizabeth, Melitza;
- Hokken-Koelega, Anita C. S.;
- Schuilwerve, Joyce;
- Peeters, Robin P.;
- Visser, Theo J.;
- de Graaff, Laura C. G.
Publication type:
Article
Health Problems in Adults with Prader–Willi Syndrome of Different Genetic Subtypes: Cohort Study, Meta-Analysis and Review of the Literature.
Published in:
Journal of Clinical Medicine, 2022, v. 11, n. 14, p. 4033, doi. 10.3390/jcm11144033
By:
- Rosenberg, Anna G. W.;
- Wellink, Charlotte M.;
- Tellez Garcia, Juan M.;
- Pellikaan, Karlijn;
- Van Abswoude, Denise H.;
- Davidse, Kirsten;
- Van Zutven, Laura J. C. M.;
- Brüggenwirth, Hennie T.;
- Resnick, James L.;
- Van der Lely, Aart J.;
- De Graaff, Laura C. G.
Publication type:
Article
Free Insulin-like Growth Factor (IGF)-I in Children with PWS.
Published in:
Journal of Clinical Medicine, 2022, v. 11, n. 5, p. 1280, doi. 10.3390/jcm11051280
By:
- Damen, Layla;
- Elizabeth, Melitza S. M.;
- Donze, Stephany H.;
- van den Berg, Sjoerd A. A.;
- de Graaff, Laura C. G.;
- Hokken-Koelega, Anita C. S.
Publication type:
Article
What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of 'Internal Medicine for Rare Genetic Syndromes'.
Published in:
Journal of Clinical Medicine, 2021, v. 10, n. 22, p. 5457, doi. 10.3390/jcm10225457
By:
- Rosenberg, Anna G. W.;
- Pater, Minke R. A.;
- Pellikaan, Karlijn;
- Davidse, Kirsten;
- Kattentidt-Mouravieva, Anja A.;
- Kersseboom, Rogier;
- Bos-Roubos, Anja G.;
- van Eeghen, Agnies;
- Veen, José M. C.;
- van der Meulen, Jiske J.;
- van Aalst-van Wieringen, Nina;
- Hoekstra, Franciska M. E.;
- van der Lely, Aart J.;
- de Graaff, Laura C. G.
Publication type:
Article
Hypogonadism in Adult Males with Prader-Willi Syndrome—Clinical Recommendations Based on a Dutch Cohort Study, Review of the Literature and an International Expert Panel Discussion.
Published in:
Journal of Clinical Medicine, 2021, v. 10, n. 19, p. 4361, doi. 10.3390/jcm10194361
By:
- Pellikaan, Karlijn;
- Ben Brahim, Yassine;
- Rosenberg, Anna G. W.;
- Davidse, Kirsten;
- Poitou, Christine;
- Coupaye, Muriel;
- Goldstone, Anthony P.;
- Høybye, Charlotte;
- Markovic, Tania P.;
- Grugni, Graziano;
- Crinò, Antonino;
- Caixàs, Assumpta;
- Eldar-Geva, Talia;
- Hirsch, Harry J.;
- Gross-Tsur, Varda;
- Butler, Merlin G.;
- Miller, Jennifer L.;
- van den Berg, Sjoerd A. A.;
- van der Lely, Aart J.;
- de Graaff, Laura C. G.
Publication type:
Article
Thyroid Function in Adults with Prader–Willi Syndrome; a Cohort Study and Literature Review.
Published in:
Journal of Clinical Medicine, 2021, v. 10, n. 17, p. 3804, doi. 10.3390/jcm10173804
By:
- Pellikaan, Karlijn;
- Snijders, Fleur;
- Rosenberg, Anna G. W.;
- Davidse, Kirsten;
- van den Berg, Sjoerd A. A.;
- Visser, W. Edward;
- van der Lely, Aart J.;
- de Graaff, Laura C. G.
Publication type:
Article
Hyperprolactinemia in Adults with Prader-Willi Syndrome.
Published in:
Journal of Clinical Medicine, 2021, v. 10, n. 16, p. 3613, doi. 10.3390/jcm10163613
By:
- Sjöström, Anna;
- Pellikaan, Karlijn;
- Sjöström, Henrik;
- Goldstone, Anthony P.;
- Grugni, Graziano;
- Crinò, Antonino;
- De Graaff, Laura C. G.;
- Höybye, Charlotte
Publication type:
Article
Hyponatremia in Children and Adults with Prader–Willi Syndrome: A Survey Involving Seven Countries.
Published in:
Journal of Clinical Medicine, 2021, v. 10, n. 16, p. 3555, doi. 10.3390/jcm10163555
By:
- Coupaye, Muriel;
- Pellikaan, Karlijn;
- Goldstone, Anthony P.;
- Crinò, Antonino;
- Grugni, Graziano;
- Markovic, Tania P.;
- Høybye, Charlotte;
- Caixàs, Assumpta;
- Mosbah, Helena;
- De Graaff, Laura C. G.;
- Tauber, Maithé;
- Poitou, Christine
Publication type:
Article
Effects of Childhood Multidisciplinary Care and Growth Hormone Treatment on Health Problems in Adults with Prader-Willi Syndrome.
Published in:
Journal of Clinical Medicine, 2021, v. 10, n. 15, p. 3250, doi. 10.3390/jcm10153250
By:
- Pellikaan, Karlijn;
- Rosenberg, Anna G. W.;
- Davidse, Kirsten;
- Kattentidt-Mouravieva, Anja A.;
- Kersseboom, Rogier;
- Bos-Roubos, Anja G.;
- Grootjen, Lionne N.;
- Damen, Layla;
- van den Berg, Sjoerd A. A.;
- van der Lely, Aart J.;
- Hokken-Koelega, Anita C. S.;
- de Graaff, Laura C. G.
Publication type:
Article
Endocrine and non-endocrine causes of fatigue in adults with Neurofibromatosis type 1.
Published in:
Frontiers in Endocrinology, 2024, p. 1, doi. 10.3389/fendo.2023.1119159
By:
- Rosenberg, Anna G. W.;
- KéMochèl;
- Hähner, Lorena M.;
- Ruules, Lara;
- Davidse, Kirsten;
- Bos-Roubos, Anja G.;
- van Dijk, Sarah A.;
- Zillikens, M. Carola;
- Taal, Walter;
- van der Lely, Aart J.;
- de Graaff, Laura C. G.
Publication type:
Article
Kidney disease in adults with Prader-Willi syndrome: international cohort study and systematic literature review.
Published in:
Frontiers in Endocrinology, 2024, p. 1, doi. 10.3389/fendo.2023.1168648
By:
- van Abswoude, Denise H.;
- Pellikaan, Karlijn;
- Nguyen, Naomi;
- Rosenberg, Anna G. W.;
- Davidse, Kirsten;
- Hoekstra, Franciska M. E.;
- Rood, Ilse M.;
- Poitou, Christine;
- Grugni, Graziano;
- Høybye, Charlotte;
- Markovic, Tania P.;
- Caixàs, Assumpta;
- Crinò, Antonino;
- van den Berg, Sjoerd A. A.;
- van der Lely, Aart J.;
- de Graaff, Laura C. G.
Publication type:
Article
Kidney disease in adults with Prader-Willi syndrome: international cohort study and systematic literature review.
Published in:
Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1168648
By:
- van Abswoude, Denise H.;
- Pellikaan, Karlijn;
- Nguyen, Naomi;
- Rosenberg, Anna G. W.;
- Davidse, Kirsten;
- Hoekstra, Franciska M. E.;
- Rood, Ilse M.;
- Poitou, Christine;
- Grugni, Graziano;
- Høybye, Charlotte;
- Markovic, Tania P.;
- Caixàs, Assumpta;
- Crinò, Antonino;
- van den Berg, Sjoerd A. A.;
- van der Lely, Aart J.;
- de Graaff, Laura C. G.
Publication type:
Article
What endocrinologists can do to prevent cardiovascular complications in adults with Prader-Willi syndrome: Lessons from a case series.
Published in:
Frontiers in Endocrinology, 2023, v. 14, p. 01, doi. 10.3389/fendo.2023.1145066
By:
- Pellikaan, Karlijn;
- van Weijen, Paula M. H.;
- Rosenberg, Anna G. W.;
- Hoekstra, Franciska M. E.;
- Vermaak, Michiel;
- Oomen, Peter H. N.;
- van der Lely, Aart J.;
- Cuypers, Judith A. A. E.;
- de Graaff, Laura C. G.
Publication type:
Article
Bone mineral density during 3 years of growth hormone in previously GH-treated young adults with PWS.
Published in:
European Journal of Endocrinology, 2021, v. 184, n. 6, p. 773, doi. 10.1530/EJE-20-1335
By:
- Damen, Layla;
- Grootjen, Lionne N.;
- Donze, Stephany H.;
- de Graaff, Laura C. G.;
- van der Velden, Janielle A. E. M.;
- Hokken-Koelega, Anita C. S.
Publication type:
Article
A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve.
Published in:
European Journal of Endocrinology, 2012, v. 167, n. 3, p. 441, doi. 10.1530/EJE-12-0333
By:
- Del Blanco, Darya Gorbenko;
- Romero, Christopher J.;
- Diaczok, Daniel;
- de Graaff, Laura C. G.;
- Radovick, Sally;
- Hokken-Koelega, Anita C. S.
Publication type:
Article
Isolated GH deficiency: mutation screening and copy number analysis of HMGA2 and CDK6 genes.
Published in:
European Journal of Endocrinology, 2011, v. 165, n. 4, p. 537, doi. 10.1530/EJE-11-0478
By:
- Del Blanco, Darya Gorbenko;
- de Graaff, Laura C. G.;
- Posthouwer, Dirk;
- Visser, Theo J.;
- Hokken-Koelega, Anita C. S.
Publication type:
Article
Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM.
Published in:
BMC Medicine, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12916-023-03012-4
By:
- Müller, Annelieke R.;
- Luijten, Michiel A. J.;
- Haverman, Lotte;
- de Ranitz-Greven, Wendela L.;
- Janssens, Peter;
- Rietman, André B.;
- ten Hoopen, Leontine W.;
- de Graaff, Laura C. G.;
- de Wit, Marie-Claire;
- Jansen, Anna C.;
- Gipson, Tanjala;
- Capal, Jamie K.;
- de Vries, Petrus J.;
- van Eeghen, Agnies M.
Publication type:
Article
Three years of growth hormone treatment in young adults with Prader-Willi syndrome: sustained positive effects on body composition.
Published in:
2020
By:
- Damen, Layla;
- Donze, Stephany H.;
- Kuppens, Renske J.;
- Bakker, Nienke E.;
- de Graaff, Laura C. G.;
- van der Velden, Janielle A. E. M.;
- Hokken-Koelega, Anita C. S.
Publication type:
journal article
Body proportions before and during growth hormone therapy in children with chronic renal failure.
Published in:
Pediatric Nephrology, 2003, v. 18, n. 7, p. 679, doi. 10.1007/s00467-003-1090-8
By:
- de Graaff, Laura C. G.;
- Mulder, Paul G. H.;
- Hokken-Koelega, Anita C. S.
Publication type:
Article
Case Report: A Detailed Phenotypic Description of Patients and Relatives with Combined Central Hypothyroidism and Growth Hormone Deficiency Carrying IGSF1 Mutations.
Published in:
Genes, 2022, v. 13, n. 4, p. 623, doi. 10.3390/genes13040623
By:
- Elizabeth, Melitza S. M.;
- Hokken-Koelega, Anita;
- Visser, Jenny A.;
- Joustra, Sjoerd D.;
- de Graaff, Laura C. G.
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
Growth hormone insensitivity syndrome caused by a heterozygous GHR mutation: phenotypic variability owing to moderation by nonsense-mediated decay.
Published in:
Clinical Endocrinology, 2012, v. 76, n. 5, p. 706, doi. 10.1111/j.1365-2265.2011.04304.x
By:
- del Blanco, Darya Gorbenko;
- de Graaff, Laura C. G.;
- Visser, Theo J.;
- Hokken-Koelega, Anita C. S.
Publication type:
Article
Genetic screening of a Dutch population with isolated GH deficiency (IGHD).
Published in:
Clinical Endocrinology, 2009, v. 70, n. 5, p. 742, doi. 10.1111/j.1365-2265.2008.03414.x
By:
- de Graaff, Laura C. G.;
- Argente, Jesús;
- Veenma, Danielle C. M.;
- Herrebout, Maaike A. C.;
- Friesema, Edith C. H.;
- Uitterlinden, André G.;
- Drent, Madeleine L.;
- Campos-Barros, Ángel;
- Hokken-Koelega, Anita C. S.
Publication type:
Article
Correction: Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM.
Published in:
2023
By:
- Müller, Annelieke R.;
- Luijten, Michiel A. J.;
- Haverman, Lotte;
- de Ranitz-Greven, Wendela L.;
- Janssens, Peter;
- Rietman, André B.;
- Hoopen, Leontine W.ten;
- de Graaff, Laura C. G.;
- de Wit, Marie-Claire;
- Jansen, Anna C.;
- Gipson, Tanjala;
- Capal, Jamie K.;
- de Vries, Petrus J.;
- van Eeghen, Agnies M.
Publication type:
Correction Notice
Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM.
Published in:
BMC Medicine, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12916-023-03012-4
By:
- Müller, Annelieke R.;
- Luijten, Michiel A. J.;
- Haverman, Lotte;
- de Ranitz-Greven, Wendela L.;
- Janssens, Peter;
- Rietman, André B.;
- ten Hoopen, Leontine W.;
- de Graaff, Laura C. G.;
- de Wit, Marie-Claire;
- Jansen, Anna C.;
- Gipson, Tanjala;
- Capal, Jamie K.;
- de Vries, Petrus J.;
- van Eeghen, Agnies M.
Publication type:
Article

Found: 34