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Familial Male-limited Precocious Puberty (FMPP) and Testicular Germ Cell Tumors.
Kooij CD, Mavinkurve-Groothuis AMC, Kremer Hovinga ICL, Looijenga LHJ, Rinne T, Giltay JC, de Kort LMO, Klijn AJ, de Krijger RR, Verrijn Stuart AA. Kooij CD, et al. Among authors: giltay jc. J Clin Endocrinol Metab. 2022 Nov 23;107(11):3035-3044. doi: 10.1210/clinem/dgac516. J Clin Endocrinol Metab. 2022. PMID: 36071555 Free PMC article. Review.
Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations.
Szakszon K, Lourenco CM, Callewaert BL, Geneviève D, Rouxel F, Morin D, Denommé-Pichon AS, Vitobello A, Patterson WG, Louie R, Pinto E Vairo F, Klee E, Kaiwar C, Gavrilova RH, Agre KE, Jacquemont S, Khadijé J, Giltay J, van Gassen K, Merő G, Gerkes E, Van Bon BW, Rinne T, Pfundt R, Brunner HG, Caluseriu O, Grasshoff U, Kehrer M, Haack TB, Khelifa MM, Bergmann AK, Cueto-González AM, Martorell AC, Ramachandrappa S, Sawyer LB, Fasel P, Braun D, Isis A, Superti-Furga A, McNiven V, Chitayat D, Ahmed SA, Brennenstuhl H, Schwaibolf EM, Battisti G, Parmentier B, Stevens SJC. Szakszon K, et al. J Med Genet. 2024 Jan 19;61(2):132-141. doi: 10.1136/jmg-2022-109030. J Med Genet. 2024. PMID: 37580113
[Genetics in medical practice after 2000].
Ploos van Amstel JK, van Haeften TW, Giltay JC. Ploos van Amstel JK, et al. Among authors: giltay jc. Ned Tijdschr Geneeskd. 1999 Nov 6;143(45):2261-5. Ned Tijdschr Geneeskd. 1999. PMID: 10578426 Review. Dutch.
93 results