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Page 1
[Recommendations for the medical management of aortic complications of Marfan's syndrome].
Jondeau G, Barthelet M, Baumann C, Bonnet D, Chevallier B, Collignon P, Dulac Y, Edouard T, Faivre L, Germain D, Khau Van Kien P, Lacombe D, Ladouceur M, Lemerrer M, Leheup B, Lupoglazoff JM, Magnier S, Muti C, Plauchu PH, Raffestin B, Sassolas F, Schleich JM, Sidi D, Themar-Noël C, Varin J, Wolf JE; Foundation Groupama; French Association of Marfan syndrome. Jondeau G, et al. Among authors: khau van kien p. Arch Mal Coeur Vaiss. 2006 May;99(5):540-6. Arch Mal Coeur Vaiss. 2006. PMID: 16802751 French. No abstract available.
[Late diagnosis of a Di George syndrome].
Manckoundia P, Khau Van Kien P, Petit JM, Millot A, Faivre L, Vaillant G. Manckoundia P, et al. Among authors: khau van kien p. Presse Med. 2003 Jan 25;32(3):118. Presse Med. 2003. PMID: 12610382 French. No abstract available.
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum.
Celse T, Tingaud-Sequeira A, Dieterich K, Siegfried G, Lecaignec C, Bouneau L, Fannemel M, Salaun G, Laffargue F, Martinez G, Satre V, Vieville G, Bidart M, Soussi Zander C, Turesson AC, Splitt M, Reboul D, Chiesa J, Khau Van Kien P, Godin M, Gruchy N, Goel H, Palmer E, Demetriou K, Shalhoub C, Rooryck C, Coutton C. Celse T, et al. Among authors: khau van kien p. J Med Genet. 2023 Jun;60(6):620-626. doi: 10.1136/jmg-2022-108678. Epub 2022 Nov 11. J Med Genet. 2023. PMID: 36368868
Terminal 6q deletions cause brain malformations, a phenotype mimicking heterozygous DLL1 pathogenic variants: A multicenter retrospective case series.
Lesieur-Sebellin M, Till M, Khau Van Kien P, Herve B, Bourgon N, Dupont C, Tabet AC, Barrois M, Coussement A, Loeuillet L, Mousty E, Ea V, El Assal A, Mary L, Jaillard S, Beneteau C, Le Vaillant C, Coutton C, Devillard F, Goumy C, Delabaere A, Redon S, Laurent Y, Lamouroux A, Massardier J, Turleau C, Sanlaville D, Cantagrel V, Sonigo P, Vialard F, Salomon LJ, Malan V. Lesieur-Sebellin M, et al. Among authors: khau van kien p. Prenat Diagn. 2022 Jan;42(1):118-135. doi: 10.1002/pd.6074. Epub 2021 Dec 11. Prenat Diagn. 2022. PMID: 34894355
A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus Arteriosus.
Chesneau B, Plancke A, Rolland G, Marcheix B, Dulac Y, Edouard T, Plaisancié J, Aubert-Mucca M, Julia S, Langeois M, Lavabre-Bertrand T, Khau Van Kien P. Chesneau B, et al. Among authors: khau van kien p. Mol Genet Genomic Med. 2021 Nov;9(11):e1814. doi: 10.1002/mgg3.1814. Epub 2021 Oct 21. Mol Genet Genomic Med. 2021. PMID: 34672437 Free PMC article.
Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disorders.
Chesneau B, Plancke A, Rolland G, Chassaing N, Coubes C, Brischoux-Boucher E, Edouard T, Dulac Y, Aubert-Mucca M, Lavabre-Bertrand T, Plaisancié J, Khau Van Kien P. Chesneau B, et al. Among authors: khau van kien p. Eur J Hum Genet. 2021 May;29(5):771-779. doi: 10.1038/s41431-020-00797-3. Epub 2021 Jan 7. Eur J Hum Genet. 2021. PMID: 33414558 Free PMC article.
Neuropsychological study in 19 French patients with White-Sutton syndrome and POGZ mutations.
Garde A, Cornaton J, Sorlin A, Moutton S, Nicolas C, Juif C, Geneviève D, Perrin L, Khau-Van-Kien P, Smol T, Vincent-Delorme C, Isidor B, Cogné B, Afenjar A, Keren B, Coubes C, Prieur F, Toutain A, Trousselet Y, Bourgouin S, Gonin-Olympiade C, Giraudat K, Piton A, Gérard B, Odent S, Tessier F, Lemasson L, Heide S, Gelineau AC, Sarret C, Miret A, Schaefer E, Piard J, Mathevet R, Boucon M, Bruel AL, Mau-Them FT, Chevarin M, Vitobello A, Philippe C, Thauvin-Robinet C, Faivre L. Garde A, et al. Among authors: khau van kien p. Clin Genet. 2021 Mar;99(3):407-417. doi: 10.1111/cge.13894. Epub 2020 Dec 15. Clin Genet. 2021. PMID: 33277917
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy.
Liu H, Giguet-Valard AG, Simonet T, Szenker-Ravi E, Lambert L, Vincent-Delorme C, Scheidecker S, Fradin M, Morice-Picard F, Naudion S, Ciorna-Monferrato V, Colin E, Fellmann F, Blesson S, Jouk PS, Francannet C, Petit F, Moutton S, Lehalle D, Chassaing N, El Zein L, Bazin A, Bénéteau C, Attié-Bitach T, Hanu SM, Brechard MP, Chiesa J, Pasquier L, Rooryck-Thambo C, Van Maldergem L, Cabrol C, El Chehadeh S, Vasiljevic A, Isidor B, Abel C, Thevenon J, Di Filippo S, Vigouroux-Castera A, Attia J, Quelin C, Odent S, Piard J, Giuliano F, Putoux A, Khau Van Kien P, Yardin C, Touraine R, Reversade B, Bouvagnet P. Liu H, et al. Among authors: khau van kien p. Hum Mutat. 2020 Dec;41(12):2167-2178. doi: 10.1002/humu.24132. Epub 2020 Nov 10. Hum Mutat. 2020. PMID: 33131162
Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule.
Cayrefourcq L, Vincent MC, Pierredon S, Moutou C, Imbert-Bouteille M, Haquet E, Puechberty J, Willems M, Liautard-Haag C, Molinari N, Zordan C, Dorian V, Rooryck-Thambo C, Goizet C, Chaussenot A, Rouzier C, Boureau-Wirth A, Monteil L, Calvas P, Miry C, Favre R, Petrov Y, Khau Van Kien P, Le Boette E, Fradin M, Alix-Panabières C, Guissart C. Cayrefourcq L, et al. Among authors: khau van kien p. Sci Rep. 2020 Jun 17;10(1):9861. doi: 10.1038/s41598-020-66923-9. Sci Rep. 2020. PMID: 32555262 Free PMC article.
NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients.
Bertacchi M, Romano AL, Loubat A, Tran Mau-Them F, Willems M, Faivre L, Khau van Kien P, Perrin L, Devillard F, Sorlin A, Kuentz P, Philippe C, Garde A, Neri F, Di Giaimo R, Oliviero S, Cappello S, D'Incerti L, Frassoni C, Studer M. Bertacchi M, et al. Among authors: khau van kien p. EMBO J. 2020 Jul 1;39(13):e104163. doi: 10.15252/embj.2019104163. Epub 2020 Jun 2. EMBO J. 2020. PMID: 32484994 Free PMC article.
60 results