non-syndromic intellectual disability

Literature (6)

Literature for DOID 0050889: non-syndromic intellectual disability

Xenbase Articles Publications associated with this Disease Ontology entry or its descendants

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Development of a novel selective inhibitor of the Down syndrome-related kinase Dyrk1A., Ogawa Y,Nonaka Y,Goto T,Ohnishi E,Hiramatsu T,Kii I,Yoshida M,Ikura T,Onogi H,Shibuya H,Hosoya T,Ito N,Hagiwara M, Nat Commun. October 5, 2010; 1:2041-1723.
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome., Hempel A,Pagnamenta AT,Blyth M,Mansour S,McConnell V,Kou I,Ikegawa S,Tsurusaki Y,Matsumoto N,Lo-Castro A,Plessis G,Albrecht B,Battaglia A,Taylor JC,Howard MF,Keays D,Sohal AS,Kühl SJ,Kühl SJ,Kini U,McNeill A, J Med Genet. March 1, 2016; 53(3):1468-6244.
De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism., Zawerton A,Yao B,Yeager JP,Pippucci T,Haseeb A,Smith JD,Wischmann L,Kühl SJ,Dean JCS,Pilz DT,Holder SE,McNeill A,Graziano C,Lefebvre V, Am J Hum Genet. February 7, 2019; 104(2):1537-6605.
Thyroid Hormone Receptor α Controls the Hind Limb Metamorphosis by Regulating Cell Proliferation and Wnt Signaling Pathways in Xenopus tropicalis., Tanizaki Y,Shibata Y,Zhang H,Shi YB,Shi YB, Int J Mol Sci. January 22, 2022; 23(3):1422-0067.
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition., Palmer EE,Pusch M,Picollo A,Forwood C,Nguyen MH,Suckow V,Gibbons J,Hoff A,Sigfrid L,Megarbane A,Nizon M,Cogné B,Beneteau C,Alkuraya FS,Chedrawi A,Hashem MO,Stamberger H,Weckhuysen S,Vanlander A,Ceulemans B,Rajagopalan S,Nunn K,Arpin S,Raynaud M,Motter CS,Ward-Melver C,Janssens K,Meuwissen M,Beysen D,Dikow N,Grimmel M,Haack TB,Clement E,McTague A,Hunt D,Townshend S,Ward M,Richards LJ,Simons C,Costain G,Dupuis L,Mendoza-Londono R,Dudding-Byth T,Boyle J,Saunders C,Fleming E,El Chehadeh S,Spitz MA,Piton A,Gerard B,Abi Warde MT,Rea G,McKenna C,Douzgou S,Banka S,Akman C,Bain JM,Sands TT,Wilson GN,Silvertooth EJ,Miller L,Lederer D,Sachdev R,Macintosh R,Monestier O,Karadurmus D,Collins F,Carter M,Rohena L,Willemsen MH,Ockeloen CW,Pfundt R,Kroft SD,Field M,Laranjeira FER,Fortuna AM,Soares AR,Michaud V,Naudion S,Golla S,Weaver DD,Bird LM,Friedman J,Clowes V,Joss S,Pölsler L,Campeau PM,Blazo M,Bijlsma EK,Rosenfeld JA,Beetz C,Powis Z,McWalter K,Brandt T,Torti E,Mathot M,Mohammad SS,Armstrong R,Kalscheuer VM, Mol Psychiatry. February 1, 2023; 28(2):1476-5578.
Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders., Kaiyrzhanov R,Rad A,Lin SJ,Bertoli-Avella A,Kallemeijn WW,Godwin A,Zaki MS,Huang K,Lau T,Petree C,Efthymiou S,Karimiani EG,Hempel M,Normand EA,Rudnik-Schöneborn S,Schatz UA,Baggelaar MP,Ilyas M,Sultan T,Alvi JR,Ganieva M,Fowler B,Aanicai R,Tayfun GA,Al Saman A,Alswaid A,Amiri N,Asilova N,Shotelersuk V,Yeetong P,Azam M,Babaei M,Monajemi GB,Mohammadi P,Samie S,Banu SH,Pinto Basto J,Kortüm F,Bauer M,Bauer P,Beetz C,Garshasbi M,Issa AH,Eyaid W,Ahmed H,Hashemi N,Hassanpour K,Herman I,Ibrohimov S,Abdul-Majeed BA,Imdad M,Isrofilov M,Kaiyal Q,Khan S,Kirmse B,Koster J,Lourenço CM,Mitani T,Moldovan O,Murphy D,Najafi M,Pehlivan D,Rocha ME,Salpietro V,Schmidts M,Shalata A,Mahroum M,Talbeya JK,Taylor RW,Vazquez D,Vetro A,Waterham HR,Zaman M,Schrader TA,Chung WK,Guerrini R,Lupski JR,Gleeson J,Suri M,Jamshidi Y,Bhatia KP,Vona B,Schrader M,Severino M,Guille M,Tate EW,Varshney GK,Houlden H,Maroofian R, Brain. April 4, 2024; 147(4):1460-2156.

Development of a novel selective inhibitor of the Down syndrome-related kinase Dyrk1A., Ogawa Y,Nonaka Y,Goto T,Ohnishi E,Hiramatsu T,Kii I,Yoshida M,Ikura T,Onogi H,Shibuya H,Hosoya T,Ito N,Hagiwara M, Nat Commun. October 5, 2010; 1:2041-1723.

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome., Hempel A,Pagnamenta AT,Blyth M,Mansour S,McConnell V,Kou I,Ikegawa S,Tsurusaki Y,Matsumoto N,Lo-Castro A,Plessis G,Albrecht B,Battaglia A,Taylor JC,Howard MF,Keays D,Sohal AS,Kühl SJ,Kühl SJ,Kini U,McNeill A, J Med Genet. March 1, 2016; 53(3):1468-6244.

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism., Zawerton A,Yao B,Yeager JP,Pippucci T,Haseeb A,Smith JD,Wischmann L,Kühl SJ,Dean JCS,Pilz DT,Holder SE,McNeill A,Graziano C,Lefebvre V, Am J Hum Genet. February 7, 2019; 104(2):1537-6605.

Thyroid Hormone Receptor α Controls the Hind Limb Metamorphosis by Regulating Cell Proliferation and Wnt Signaling Pathways in Xenopus tropicalis., Tanizaki Y,Shibata Y,Zhang H,Shi YB,Shi YB, Int J Mol Sci. January 22, 2022; 23(3):1422-0067.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition., Palmer EE,Pusch M,Picollo A,Forwood C,Nguyen MH,Suckow V,Gibbons J,Hoff A,Sigfrid L,Megarbane A,Nizon M,Cogné B,Beneteau C,Alkuraya FS,Chedrawi A,Hashem MO,Stamberger H,Weckhuysen S,Vanlander A,Ceulemans B,Rajagopalan S,Nunn K,Arpin S,Raynaud M,Motter CS,Ward-Melver C,Janssens K,Meuwissen M,Beysen D,Dikow N,Grimmel M,Haack TB,Clement E,McTague A,Hunt D,Townshend S,Ward M,Richards LJ,Simons C,Costain G,Dupuis L,Mendoza-Londono R,Dudding-Byth T,Boyle J,Saunders C,Fleming E,El Chehadeh S,Spitz MA,Piton A,Gerard B,Abi Warde MT,Rea G,McKenna C,Douzgou S,Banka S,Akman C,Bain JM,Sands TT,Wilson GN,Silvertooth EJ,Miller L,Lederer D,Sachdev R,Macintosh R,Monestier O,Karadurmus D,Collins F,Carter M,Rohena L,Willemsen MH,Ockeloen CW,Pfundt R,Kroft SD,Field M,Laranjeira FER,Fortuna AM,Soares AR,Michaud V,Naudion S,Golla S,Weaver DD,Bird LM,Friedman J,Clowes V,Joss S,Pölsler L,Campeau PM,Blazo M,Bijlsma EK,Rosenfeld JA,Beetz C,Powis Z,McWalter K,Brandt T,Torti E,Mathot M,Mohammad SS,Armstrong R,Kalscheuer VM, Mol Psychiatry. February 1, 2023; 28(2):1476-5578.

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders., Kaiyrzhanov R,Rad A,Lin SJ,Bertoli-Avella A,Kallemeijn WW,Godwin A,Zaki MS,Huang K,Lau T,Petree C,Efthymiou S,Karimiani EG,Hempel M,Normand EA,Rudnik-Schöneborn S,Schatz UA,Baggelaar MP,Ilyas M,Sultan T,Alvi JR,Ganieva M,Fowler B,Aanicai R,Tayfun GA,Al Saman A,Alswaid A,Amiri N,Asilova N,Shotelersuk V,Yeetong P,Azam M,Babaei M,Monajemi GB,Mohammadi P,Samie S,Banu SH,Pinto Basto J,Kortüm F,Bauer M,Bauer P,Beetz C,Garshasbi M,Issa AH,Eyaid W,Ahmed H,Hashemi N,Hassanpour K,Herman I,Ibrohimov S,Abdul-Majeed BA,Imdad M,Isrofilov M,Kaiyal Q,Khan S,Kirmse B,Koster J,Lourenço CM,Mitani T,Moldovan O,Murphy D,Najafi M,Pehlivan D,Rocha ME,Salpietro V,Schmidts M,Shalata A,Mahroum M,Talbeya JK,Taylor RW,Vazquez D,Vetro A,Waterham HR,Zaman M,Schrader TA,Chung WK,Guerrini R,Lupski JR,Gleeson J,Suri M,Jamshidi Y,Bhatia KP,Vona B,Schrader M,Severino M,Guille M,Tate EW,Varshney GK,Houlden H,Maroofian R, Brain. April 4, 2024; 147(4):1460-2156.