Results 61 to 70 of about 9,068 (100)

Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies. [PDF]

Clin Genet
Chesneau B, Willems M, Bouazzaoui A, Lequeux L, Plaisancié J, El Chehadeh S, Dollfus H, Chassaing N.   +7 more
europepmc   +1 more source

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients. [PDF]

Clin Genet
Bergès C, Sauvestre C, Naudion S, Delorme CV, Smol T, Rama M, Moortgat S, Maystadt I, Kersseboom R, Wilke M, Barakat TS, Vial Y, Perrin L, Passemard S, Ahmad F, Umair M, Haack T, Grimmel M, Kuechler A, Slavotinek A, Devine P, Hodoglugil U, Zafar F, Afzal E, Dudding-Byth T, Jouret G, Herissant L, Efthymiou S, Houlden H, Legendre M, Michaud V.   +30 more
europepmc   +1 more source

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with <i>NF1</i> point variants. [PDF]

J Med Genet
Pacot L, Blok M, Vidaud D, Fertitta L, Laurendeau I, Coustier A, Maillard T, Barbance C, Hadjadj D, Ye M, Lallemand D, Ferkal S, Funalot B, Lunati-Rozie A, Hebrard B, Bhouri R, Spruijt L, Bessis D, Geneviève D, Vernimmen V, Broen MPG, Sigaudy S, Odent S, Damaj L, Quélin C, Pasquier L, Layet V, Gilbert-Dussardier B, Nicolas G, Guerrot AM, Leheup B, Bursztejn AC, Petit F, Boute-Bénéjean O, Capri Y, Guimier A, Lyonnet S, Baujat G, Bourrat E, Isidor B, Nizon M, Barbarot S, Toutain A, Blesson S, Van-Gils J, Morice-Picard F, Audebert-Bellanger S, Mazereeuw-Hautier J, Ziegler A, Alembik Y, Piard J, Brischoux-Boucher E, Guerrini-Rousseau L, Morera J, Paquis-Flucklinger V, Delobel B, Alessandri JL, Parfait B, NF-France network, Wolkenstein P, Pasmant E.   +60 more
europepmc   +1 more source

Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders. [PDF]

Nature
De Jonghe J, Kim HC, Adedeji A, Leitão E, Dawes R, Kajba CM, Cogné B, Chen Y, Blakes AJM, Simons C, Rius R, Alvi JR, Amblard F, Austin-Tse C, Baer S, Balton EV, Blanc P, Calame DG, Coutton C, Cunningham CA, Dargie N, Dipple KM, Du H, El Chehadeh S, Glass I, Gleeson JG, Grunewald O, Gueguen P, Harbuz R, Jacquemont ML, Leventer RJ, Marijon P, Messaoud O, Sultan T, Thauvin C, Vincent-Delorme C, Yilmaz Gulec E, Thevenon J, Mendez R, MacArthur DG, Depienne C, Nava C, Whiffin N, Findlay GM.   +43 more
europepmc   +1 more source

Phenotype-specific muscle proteomic profiling in titinopathies. [PDF]

Acta Neuropathol Commun
Perrin A, Casenave-Camgaston MR, Rabillard B, Raynaud F, Urbach S, Seveno M, Navarro AM, Tendero-Baziou A, Matecki S, Cancès C, Durigneux J, Biancalana V, Petit F, Tard C, Molin A, Godin M, Latypova X, Rendu J, Jeanne M, Juntas Morales R, Salort-Campana E, Verschueren A, Krahn M, Gorokhova S, Attarian S, Solé G, Esselin F, Martin-Négrier ML, Métay C, Jorgensen C, Bergougnoux A, Koenig M, Cossée M.   +32 more
europepmc   +1 more source

[Expression of NF-κB, EGFR, and HER3 in castration-resistant prostate adenocarcinoma: a clinical and molecular study of 88 Moroccan patients]. [PDF]

Pan Afr Med J
Sadaoui I, Sadaoui I, Joutei HAH, Benomar H, Nadifi S.   +4 more
europepmc   +1 more source

Colonisation history of a vector species of veterinary interest: phylogeography of Culicoides imicola (Diptera: Ceratopogonidae) in the Indian Ocean revealing low genetic structure. [PDF]

Parasite
Ribon-Chaudat L, Huber K, Bru D, Bhoobun H, Derepas B, Dupraz M, Elahee KB, Iyaloo DP, Girod R, Labuschagne K, Tantely L, Baldet T, Garros C.   +12 more
europepmc   +1 more source

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes. [PDF]

Nat Genet
Rius R, Blakes AJM, Chen Y, De Jonghe J, Lecoquierre F, Dawes R, Cogne B, Kim HC, Alvi JR, Amblard F, Ansari M, Arlt A, Austin-Tse C, Baer S, Balasubramanian M, Balton EV, Barcia G, Beleza-Meireles A, Bernstein JA, Beygo J, Blanc P, Bramswig NC, Braun F, Buchzik D, Calame DG, Campbell J, Coutton C, Cunningham CA, Dargie N, Depienne C, Dipple KM, Dieux A, Dixit A, Dreyer L, Du H, El Chehadeh S, Field M, Ewans LJ, Geiger V, Gibbs RA, Glass I, Grunewald O, Gueguen P, Haack TB, Hadj Abdallah H, Harbuz R, Helbig I, Horvath J, Hustinx A, Isidor B, Jacquemont ML, Jamie F, Jeanne M, Kessler R, Klinkhammer H, Korenke GC, Kotzaeridou U, Krawitz P, Laurie S, Leventer RJ, Levy RJ, Lupski JR, Marijon P, McGinnis KE, Mendez R, Messaoud O, Nava C, Nizard M, O'Donnell-Luria A, O'Leary MC, Olivieri S, Parida A, Pehlivan D, Prentice AJ, Posey JE, Reuter CM, Satre V, Schluth-Bolard C, Smol T, Sultan T, Taylor J, Thauvin-Robinet C, Thevenon J, Uebergang E, Ueberberg S, Vincent-Delorme C, Wassmer E, Westwood E, Wheeler MT, Gulec EY, Vanderver A, Vossough A, Sanders SJ, Banka S, Findlay GM, MacArthur DG, Simons C, Whiffin N.   +97 more
europepmc   +1 more source

Genomic fusion breakpoints for DNA-based measurable residual disease monitoring in pediatric acute lymphoblastic leukemia. [PDF]

Leukemia
Houtman AH, Arfeuille C, Strullu M, Baruchel A, Cavé H, Caye-Eude A.   +5 more
europepmc   +1 more source

PERIGENOMED-CLINICS 1-the first study on feasibility, acceptability and psychosocial impact of PERIGENOMED: a pilot project aimed at providing initial concrete evidence on the relevance of panel-based genome sequencing for newborn screening (NBS) in France. [PDF]

BMJ Open
Level C, Thauvin-Robinet C, Binquet C, Duffourd Y, Davoine E, Chevarin M, Tran-Mau-Them F, Lemaitre M, Bruel AL, Safraou H, Salvi D, Tisserant E, Lecommandeur E, Charreton A, Hassine A, de Tayrac M, Redon R, Barc J, Schmitt S, Piard J, Kuentz P, Cormier C, Malbos M, Racine C, Chabrol B, Cheillan D, Tardy V, Colin E, Bris C, Mercier S, Nizon M, Gaudillat L, Loizeau V, Lenelle C, Mottet N, Simon E, Arnoux JB, Carpentier M, Renaud C, Ziegler A, Lejeune C, Jannot AS, Asensio ML, Rollier P, Odent S, Bezieau S, Pasquier L, Huet F, Faivre L.   +48 more
europepmc   +1 more source