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Turner syndrome: skin, liver, eyes, dental and ENT evaluation should be improved.
Lam J, Stoppa-Vaucher S, Antoniou MC, Bouthors T, Ruiz I, Sekarski N, Rutz T, Fries S, Binz PA, Bütschi FN, Vulliemoz N, Gawlik A, Pitteloud N, Hauschild M, Busiah K. Lam J, et al. Among authors: butschi fn. Front Endocrinol (Lausanne). 2023 Jul 25;14:1190670. doi: 10.3389/fendo.2023.1190670. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37560299 Free PMC article.
Estimating the effect size of the 15Q11.2 BP1-BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice.
Jønch AE, Douard E, Moreau C, Van Dijck A, Passeggeri M, Kooy F, Puechberty J, Campbell C, Sanlaville D, Lefroy H, Richetin S, Pain A, Geneviève D, Kini U, Le Caignec C, Lespinasse J, Skytte AB, Isidor B, Zweier C, Caberg JH, Delrue MA, Møller RS, Bojesen A, Hjalgrim H, Brasch-Andersen C, Lemyre E, Ousager LB, Jacquemont S; 15q11.2 Working Group. Jønch AE, et al. J Med Genet. 2019 Oct;56(10):701-710. doi: 10.1136/jmedgenet-2018-105879. Epub 2019 Aug 26. J Med Genet. 2019. PMID: 31451536 Free PMC article.
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.
Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, van der Werf I, Waszak SM, Zazhytska M, Roberts-Caldeira I, Gheldof N, Migliavacca E, Alfaiz AA, Hippolyte L, Maillard AM; 2p15 Consortium; 16p11.2 Consortium; Van Dijck A, Kooy RF, Sanlaville D, Rosenfeld JA, Shaffer LG, Andrieux J, Marshall C, Scherer SW, Shen Y, Gusella JF, Thorsteinsdottir U, Thorleifsson G, Dermitzakis ET, Deplancke B, Beckmann JS, Rougemont J, Jacquemont S, Reymond A. Loviglio MN, et al. Mol Psychiatry. 2017 Jun;22(6):836-849. doi: 10.1038/mp.2016.84. Epub 2016 May 31. Mol Psychiatry. 2017. PMID: 27240531 Free PMC article.
[R74W;R1070W;D1270N]: a new complex allele responsible for cystic fibrosis.
de Prada Merino A, Bütschi FN, Bouchardy I, Beckmann JS, Morris MA, Hafen GM, Fellmann F. de Prada Merino A, et al. Among authors: butschi fn. J Cyst Fibros. 2010 Dec;9(6):447-9. doi: 10.1016/j.jcf.2010.08.014. Epub 2010 Sep 28. J Cyst Fibros. 2010. PMID: 20880762 Free article.