Biblio

33557 resultats trouvés
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M. Basilicata F, Bruel A-L, Semplicio G, Valsecchi CIsabelle K, Aktas T, Duffourd Y, Rumpf T, Morton J, Bache I, Szymanski WG et al..  2018.  De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. NATURE GENETICS. 50:1442+.
Kury S., van Woerden G.M, Besnard T., Latypova X., Cho M.T, Sanders S., Stessman H.AF, Sellars E.A, Berg J., Waugh J.L et al..  2019.  De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability. EUROPEAN JOURNAL OF HUMAN GENETICS. 27:837-838.
Kury S., van Woerden G.M, Besnard T., Latypova X., Cho M.T, Sanders S., Stessman H.AF, Sellars E.A, Berg J., Waugh J.L et al..  2019.  De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability. EUROPEAN JOURNAL OF HUMAN GENETICS. 27:837-838.
Writzl K, Maver A, Kovacic L, Martinez-Valero P, Contreras L, Satrustegui J, Castori M, Faivre L, Lapunzina P, van Kuilenburg ABP et al..  2017.  De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise. AMERICAN JOURNAL OF HUMAN GENETICS. 101:844-855.
Writzl K., Maver A., Kovacic L., Martinez-Valero P., Contreras L., Satrustegui J., Castori M., Faivre L., Lapunzina P., van Kuilenburg A.BP et al..  2019.  De novo mutations in SLC25A24 cause a disorder characterized by early aging, bone dysplasia, characteristic face, and early demise (Fontaine syndrome). EUROPEAN JOURNAL OF HUMAN GENETICS. 27:815-816.
Writzl K., Maver A., Kovacic L., Martinez-Valero P., Contreras L., Satrustegui J., Castori M., Faivre L., Lapunzina P., van Kuilenburg A.BP et al..  2019.  De novo mutations in SLC25A24 cause a disorder characterized by early aging, bone dysplasia, characteristic face, and early demise (Fontaine syndrome). EUROPEAN JOURNAL OF HUMAN GENETICS. 27:815-816.
Lehalle D, Vabres P, Sorlin A, Bierhals T, Avila M, Carmignac V, Chevarin M, Torti E, Abe Y, Bartolomaeus T et al..  2020.  De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features. JOURNAL OF MEDICAL GENETICS. 57:808-819.
De lange I, Helbig K., Weckhuysen S., Moller R., Velinov M., Dolzhanskaya N., Marsh E., Helbig I, Devinsky O., Tang S. et al..  2016.  DE NOVO MUTATIONS OF KIAA2022 IN FEMALES CAUSE INTELLECTUAL DISABILITY AND INTRACTABLE EPILEPSY. EPILEPSIA. 57:113-114.
Lucasson F, Richette P, Aouad K, Ruyssen-Witrand A, Wendling D, Fautrel B, Gossec L.  2021.  De Novo Psoriasis Can Be Reported at Any Timepoint in Early Axial Spondyloarthritis: An Analysis of 6 Years of Follow-up of the DESIR Cohort. ARTHRITIS & RHEUMATOLOGY. 73:2716-2717.
Vaudreuil L, Bessede T, Boissier R, Bouye S, Branchereau J, Caillet K, Kleinclauss F, Verhoest G, Tillou X.  2020.  De novo renal carcinoma arising in non-functional kidney graft: a national retrospective study. INTERNATIONAL UROLOGY AND NEPHROLOGY. 52:1235-1241.
Cappuccio G, Sayou C, Le Tanno P, Tisserant E, Bruel A-L, Kennani SEl, Sa J, Low KJ, Dias C, Havlovicova M et al..  Submitted.  De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome. GENETICS IN MEDICINE.
Nambot S, Faivre L, Mirzaa G, Thevenon J, Bruel A-L, Mosca-Boidron A-L, Masurel-Paulet A, Goldenberg A, Le Meur N, Charollais A et al..  2020.  De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature. EUROPEAN JOURNAL OF HUMAN GENETICS. 28:770-782.
F. Mau-Them T, Guibaud L., Duplomb L., Keren B., Lindstrom K., Marey I, Mochel F., van den Boogaard M.J, Oegema R., Nava C. et al..  2019.  De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy. GENETICS IN MEDICINE. 21:1008-1014.
F. Mau-Them T, Vitobello A., Guibaud L., Duplomb L., Keren B., Lindstrom K., Marey I., Mochel F., van den Boogaard M., Oegema R. et al..  2019.  De novo truncating variants in the intronless IRF2BPL gene are responsible for developmental epileptic encephalopathy. EUROPEAN JOURNAL OF HUMAN GENETICS. 27:220-221.
Palmer EE, Hong S, Zahrani FAl, Hashem MO, Aleisa FA, Ahmed HMJalal, Kandula T, Macintosh R, Minoche AE, Puttick C et al..  2019.  De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome. AMERICAN JOURNAL OF HUMAN GENETICS. 104:542-552.
L. Blok S, Kleefstra T., Venselaar H., Maas S., Kroes H.Y, Lachmeijer A.MA, van Gassen K.LI, Firth H.V, Tomkins S., Bodek S. et al..  2019.  De novo variants disturbing the transactivation capacity of POU3F3 cause a characteristic neurodevelopmental disorder. EUROPEAN JOURNAL OF HUMAN GENETICS. 27:1117.
Blok LSnijders, Kleefstra T, Venselaar H, Maas S, Kroes HY, Lachmeijer AMA, , , Tomkins S, Bodek S et al..  2019.  De Novo Variants Disturbing the Transactivation Capacity of POU3F3 Cause a Characteristic Neurodevelopmental Disorder. AMERICAN JOURNAL OF HUMAN GENETICS. 105:403-412.
Vissers LELM, Kalvakuri S, de Boer E, Geuer S, Oud M, van Outersterp I, Kwint M, Witmond M, Kersten S, Polla DL et al..  2020.  De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay. AMERICAN JOURNAL OF HUMAN GENETICS. 107:164-172.
Martin R., Splitt M., Genevieve D., Aten E., Collins A., , Faivre L., Foulds N., Giltay J., Ibitoye R. et al..  2019.  De novo variants in CNOT3 cause a variable neurodevelopmental disorder. EUROPEAN JOURNAL OF HUMAN GENETICS. 27:1677-1682.
Tan T.Y, Dong X., Costain G., Rodan L.H, Lynch S., Gupta A., Dowling J.J, Walker S., Chung W.K, Au P.YBillie et al..  2020.  DE NOVO VARIANTS IN FBXW7 ASSOCIATED WITH A VARIABLE NEURODEVELOPMENTAL AND CONGENITAL ANOMALY PHENOTYPE. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 182:917-918.
Tan T.Y, Dong X., Costain G., Rodan L.H, Lynch S., Gupta A., Dowling J.J, Walker S., Chung W.K, Au P.YBillie et al..  2020.  DE NOVO VARIANTS IN FBXW7 ASSOCIATED WITH A VARIABLE NEURODEVELOPMENTAL AND CONGENITAL ANOMALY PHENOTYPE. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 182:917-918.
Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LBomme, Boonsawat P, Bruel A-L, Buchert R, Calpena E et al..  2018.  De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder. AMERICAN JOURNAL OF HUMAN GENETICS. 103:305-316.
Cappuccio G, Sayou C, Le Tanno P, Tisserant E, Bruel A-L, Kennani SEl, Sa J, Low KJ, Dias C, Havlovicova M et al..  Submitted.  De novoSMARCA2variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides-Baraitser syndrome. GENETICS IN MEDICINE.
Vecco M, Srakar A.  2018.  De visitus non est disputandum: How Visitors to Public Museums Cluster Towards Deaccessioning. INTERNATIONAL JOURNAL OF ARTS MANAGEMENT. 20:46-55.
Perronnet F, Buisson J, Lombard A, Abbas-Turki A, Ahmane M, Moudni AEl.  2019.  Deadlock Prevention of Self-Driving Vehicles in a Network of Intersections. IEEE TRANSACTIONS ON INTELLIGENT TRANSPORTATION SYSTEMS. 20:4219-4233.

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