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A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.
Jansen S, Hoischen A, Coe BP, Carvill GL, Van Esch H, Bosch DGM, Andersen UA, Baker C, Bauters M, Bernier RA, van Bon BW, Claahsen-van der Grinten HL, Gecz J, Gilissen C, Grillo L, Hackett A, Kleefstra T, Koolen D, Kvarnung M, Larsen MJ, Marcelis C, McKenzie F, Monin ML, Nava C, Schuurs-Hoeijmakers JH, Pfundt R, Steehouwer M, Stevens SJC, Stumpel CT, Vansenne F, Vinci M, van de Vorst M, Vries P, Witherspoon K, Veltman JA, Brunner HG, Mefford HC, Romano C, Vissers LELM, Eichler EE, de Vries BBA. Jansen S, et al. Eur J Hum Genet. 2018 Jan;26(1):54-63. doi: 10.1038/s41431-017-0039-5. Epub 2017 Dec 5. Eur J Hum Genet. 2018. PMID: 29209020 Free PMC article.
Corrigendum: Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country.
Utari A, Faradz SMH, Ediati A, Rinne T, Ariani MD, Juniarto AZ, Drop SLS, van Herwaarden AE, Claahsen-van der Grinten HL. Utari A, et al. Among authors: claahsen van der grinten hl. Front Endocrinol (Lausanne). 2023 May 4;14:1210892. doi: 10.3389/fendo.2023.1210892. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37214254 Free PMC article.
Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country.
Utari A, Faradz SMH, Ediati A, Rinne T, Ariani MD, Juniarto AZ, Drop SLS, van Herwaarden AE, Claahsen-van der Grinten HL. Utari A, et al. Front Endocrinol (Lausanne). 2022 Dec 15;13:1015973. doi: 10.3389/fendo.2022.1015973. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36589846 Free PMC article.
The clinical characteristics and quality of life of 248 pediatric and adult patients with Congenital Adrenal Hyperplasia.
Shafaay EA, Aldriweesh MA, Aljahdali GL, Babiker A, Alomar AO, Alharbi KM, Aldalaan H, Alenazi A, Alangari AS, Alsagheir A, Adriaansen BPH, Claahsen-van der Grinten HL, Al Alwan I. Shafaay EA, et al. Among authors: claahsen van der grinten hl. Front Endocrinol (Lausanne). 2023 Jun 6;14:1122435. doi: 10.3389/fendo.2023.1122435. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37347111 Free PMC article.
[Multiple endocrine neoplasia type 2B].
Pijnenburg-Kleizen KJ, van Santen HM, Koolen DA, Claahsen-van der Grinten HL. Pijnenburg-Kleizen KJ, et al. Ned Tijdschr Geneeskd. 2015;159:A7719. Ned Tijdschr Geneeskd. 2015. PMID: 25944066 Dutch.
Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family.
Morava E, Kühnisch J, Drijvers JM, Robben JH, Cremers C, van Setten P, Branten A, Stumpp S, de Jong A, Voesenek K, Vermeer S, Heister A, Claahsen-van der Grinten HL, O'Neill CW, Willemsen MA, Lefeber D, Deen PM, Kornak U, Kremer H, Wevers RA. Morava E, et al. J Clin Endocrinol Metab. 2011 Jan;96(1):E189-98. doi: 10.1210/jc.2010-1539. Epub 2010 Oct 13. J Clin Endocrinol Metab. 2011. PMID: 20943778 Free PMC article.
118 results