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Bardet-Biedl syndrome improved diagnosis criteria and management: Inter European Reference Networks consensus statement and recommendations.
Dollfus H, Lilien MR, Maffei P, Verloes A, Muller J, Bacci GM, Cetiner M, van den Akker ELT, Grudzinska Pechhacker M, Testa F, Lacombe D, Stokman MF, Simonelli F, Gouronc A, Gavard A, van Haelst MM, Koenig J, Rossignol S, Bergmann C, Zacchia M, Leroy BP, Mosbah H, Van Eerde AM, Mekahli D, Servais A, Poitou C, Valverde D. Dollfus H, et al. Among authors: van haelst mm. Eur J Hum Genet. 2024 Nov;32(11):1347-1360. doi: 10.1038/s41431-024-01634-7. Epub 2024 Jul 31. Eur J Hum Genet. 2024. PMID: 39085583 Free PMC article. Review.
Bariatric Surgery for Monogenic Non-syndromic and Syndromic Obesity Disorders.
Vos N, Oussaada SM, Cooiman MI, Kleinendorst L, Ter Horst KW, Hazebroek EJ, Romijn JA, Serlie MJ, Mannens MMAM, van Haelst MM. Vos N, et al. Among authors: van haelst mm. Curr Diab Rep. 2020 Jul 30;20(9):44. doi: 10.1007/s11892-020-01327-7. Curr Diab Rep. 2020. PMID: 32729070 Free PMC article. Review.
[A girl with 16p11.2 deletion syndrome].
Kleinendorst L, Sno M, van Haelst MM. Kleinendorst L, et al. Among authors: van haelst mm. Ned Tijdschr Geneeskd. 2019 Mar 21;163:D3441. Ned Tijdschr Geneeskd. 2019. PMID: 30945833 Dutch.
Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.
Tatton-Brown K, Hanks S, Ruark E, Zachariou A, Duarte Sdel V, Ramsay E, Snape K, Murray A, Perdeaux ER, Seal S, Loveday C, Banka S, Clericuzio C, Flinter F, Magee A, McConnell V, Patton M, Raith W, Rankin J, Splitt M, Strenger V, Taylor C, Wheeler P, Temple KI, Cole T; Childhood Overgrowth Collaboration; Douglas J, Rahman N. Tatton-Brown K, et al. Oncotarget. 2011 Dec;2(12):1127-33. doi: 10.18632/oncotarget.385. Oncotarget. 2011. PMID: 22190405 Free PMC article.
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.
Sadikovic B, Levy MA, Kerkhof J, Aref-Eshghi E, Schenkel L, Stuart A, McConkey H, Henneman P, Venema A, Schwartz CE, Stevenson RE, Skinner SA, DuPont BR, Fletcher RS, Balci TB, Siu VM, Granadillo JL, Masters J, Kadour M, Friez MJ, van Haelst MM, Mannens MMAM, Louie RJ, Lee JA, Tedder ML, Alders M. Sadikovic B, et al. Among authors: van haelst mm. Genet Med. 2021 Jun;23(6):1065-1074. doi: 10.1038/s41436-020-01096-4. Epub 2021 Feb 5. Genet Med. 2021. PMID: 33547396 Free PMC article.
Epigenotype-phenotype correlations in Silver-Russell syndrome.
Wakeling EL, Amero SA, Alders M, Bliek J, Forsythe E, Kumar S, Lim DH, MacDonald F, Mackay DJ, Maher ER, Moore GE, Poole RL, Price SM, Tangeraas T, Turner CL, Van Haelst MM, Willoughby C, Temple IK, Cobben JM. Wakeling EL, et al. Among authors: van haelst mm. J Med Genet. 2010 Nov;47(11):760-8. doi: 10.1136/jmg.2010.079111. Epub 2010 Aug 3. J Med Genet. 2010. PMID: 20685669 Free PMC article.
Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype.
Tatton-Brown K, Murray A, Hanks S, Douglas J, Armstrong R, Banka S, Bird LM, Clericuzio CL, Cormier-Daire V, Cushing T, Flinter F, Jacquemont ML, Joss S, Kinning E, Lynch SA, Magee A, McConnell V, Medeira A, Ozono K, Patton M, Rankin J, Shears D, Simon M, Splitt M, Strenger V, Stuurman K, Taylor C, Titheradge H, Van Maldergem L, Temple IK, Cole T, Seal S; Childhood Overgrowth Consortium; Rahman N. Tatton-Brown K, et al. Am J Med Genet A. 2013 Dec;161A(12):2972-80. doi: 10.1002/ajmg.a.36229. Epub 2013 Nov 8. Am J Med Genet A. 2013. PMID: 24214728 Free article.
151 results