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A Fast, Easy, and Customizable Eight-Color Flow Cytometric Method for Analysis of the Cellular Content of Bronchoalveolar Lavage Fluid in the Mouse.
Daubeuf F(1)(2), Becker J(3), Aguilar-Pimentel JA(4), Ebel C(5), Hrabe de Angelis M(4), Herault Y(3)(5)(6)(7)(8), Frossard N(1)(2).
Curr Protoc Mouse Biol 19 juin 2017
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A Gradient of Glycolytic Activity Coordinates FGF and Wnt Signaling during Elongation of the Body Axis in Amniote Embryos.
Oginuma M(1), Moncuquet P(2), Xiong F(3), Karoly E(4), Chal J(1), Guevorkian K(1), Pourquie O(5).
Dev Cell 27 février 2017
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A no-stop mutation in MAGEB4 is a possible cause of rare X-linked azoospermia and oligozoospermia in a consanguineous Turkish family.
Okutman O(1)(2)(3), Muller J(4)(5), Skory V(1), Garnier JM(6), Gaucherot A(7), Baert Y(8), Lamour V(9), Serdarogullari M(10), Gultomruk M(10), Ropke A(11), Kliesch S(12), Herbepin V(13), Aknin I(14), Benkhalifa M(15), Teletin M(1), Bakircioglu E(16), Goossens E(8), Charlet-Berguerand N(7), Bahceci M(10), Tuttelmann F(11), Viville S(17)(18)(19)(20).
J Assist Reprod Genet May 2017
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A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT).
Giorgio E(1), Vaula G(2), Benna P(3,)(4), Lo Buono N(5,)(6), Eandi CM(7), Dino D(8), Mancini C(1), Cavalieri S(9), Di Gregorio E(9), Pozzi E(1), Ferrero M(1), Giordana MT(2,)(3), Depienne C(10,)(11), Brusco A(1,)(9).
J Neurol Neurosurg Psychiatry 4 mai 2017
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A novel recurrent LIS1 splice site mutation in classic lissencephaly.
Philbert M(1,)(2), Maillard C(1,)(2), Cavallin M(1,)(2), Goldenberg A(3), Masson C(4), Boddaert N(5,)(6), El Morjani A(1,)(7), Steffann J(1,)(7), Chelly J(8,)(9,)(10,)(11,)(12), Gerard X(1,)(13), Bahi-Buisson N(1,)(2,)(14).
Am J Med Genet A Feb 2017
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A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies.
Coutelier M(1)(2)(3)(4)(5)(6), Coarelli G(1)(2)(3)(4)(7), Monin ML(7), Konop J(1)(2)(3)(4)(6), Davoine CS(1)(2)(3)(4), Tesson C(1)(2)(3)(4)(6), Valter R(1)(2)(3)(4)(6), Anheim M(8)(9)(10), Behin A(11), Castelnovo G(12), Charles P(7), David A(13), Ewenczyk C(7), Fradin M(14)(15), Goizet C(16)(17), Hannequin D(18), Labauge P(19), Riant F(20), Sarda P(21), Sznajer Y(22), Tison F(23), Ullmann U(24), Van Maldergem L(25)(26), Mochel F(1)(2)(3)(4)(7)(27), Brice A(1)(2)(3)(4)(7), Stevanin G(1)(2)(3)(4)(6)(7), Durr A(1)(2)(3)(4)(7); SPATAX network.
Brain 1 juin 2017
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Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.
Biancalana V(1)(2)(3)(4)(5), Scheidecker S(6), Miguet M(6), Laquerriere A(7), Romero NB(8)(9), Stojkovic T(9), Abath Neto O(10), Mercier S(11)(12)(13), Voermans N(14), Tanner L(15), Rogers C(16), Ollagnon-Roman E(17), Roper H(18), Boutte C(19), Ben-Shachar S(20), Lornage X(21)(22)(23)(24), Vasli N(21)(22)(23)(24), Schaefer E(25), Laforet P(26), Pouget J(27), Moerman A(28), Pasquier L(29), Marcorelle P(30)(31), Magot A(13), Kusters B(32), Streichenberger N(33), Tranchant C(34), Dondaine N(6), Schneider R(21)(22)(23)(24)(35), Gasnier C(6), Calmels N(6), Kremer V(36), Nguyen K(37), Perrier J(13), Kamsteeg EJ(38), Carlier P(39), Carlier RY(40), Thompson J(35), Boland A(41), Deleuze JF(41), Fardeau M(8)(9), Zanoteli E(10), Eymard B(26), Laporte J(21)(22)(23)(24).
Acta Neuropathol 6 juillet 2017
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Alkoxyurea-Based Histone Deacetylase Inhibitors Increase Cisplatin Potency in Chemoresistant Cancer Cell Lines.
Stenzel K(1), Hamacher A(1), Hansen FK(1)(2), Gertzen CGW(1), Senger J(3), Marquardt V(1)(4)(5)(6), Marek L(1), Marek M(7), Romier C(7), Remke M(4)(5)(6), Jung M(3), Gohlke H(1), Kassack MU(1), Kurz T(1).
J Med Chem 13 juillet 2017
