syndromic intellectual disability

Literature (7)

Literature for DOID 0050888: syndromic intellectual disability

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

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The splicing factor PQBP1 regulates mesodermal and neural development through FGF signaling., Iwasaki Y,Thomsen GH, Development. October 1, 2014; 141(19):1477-9129.
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females., Palmer EE,Stuhlmann T,Weinert S,Haan E,Van Esch H,Holvoet M,Boyle J,Leffler M,Raynaud M,Moraine C,van Bokhoven H,Kleefstra T,Kahrizi K,Najmabadi H,Ropers HH,Delgado MR,Sirsi D,Golla S,Sommer A,Pietryga MP,Chung WK,Wynn J,Rohena L,Bernardo E,Hamlin D,Faux BM,Grange DK,Manwaring L,Tolmie J,Joss S,Cobben JM,Duijkers FAM,Goehringer JM,Challman TD,Hennig F,Fischer U,Grimme A,Suckow V,Musante L,Nicholl J,Shaw M,Lodh SP,Niu Z,Rosenfeld JA,Stankiewicz P,Jentsch TJ,Gecz J,Field M,Kalscheuer VM, Mol Psychiatry. February 1, 2018; 23(2):1476-5578.
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features., Niturad CE,Lev D,Kalscheuer VM,Charzewska A,Schubert J,Lerman-Sagie T,Kroes HY,Oegema R,Traverso M,Specchio N,Lassota M,Chelly J,Bennett-Back O,Carmi N,Koffler-Brill T,Iacomino M,Trivisano M,Capovilla G,Striano P,Nawara M,Rzonca S,Fischer U,Bienek M,Jensen C,Hu H,Thiele H,Altmüller J,Krause R,May P,Becker F,Balling R,Biskup S,Haas SA,Nürnberg P,van Gassen KLI,Lerche H,Zara F,Maljevic S,Leshinsky-Silver E, Brain. November 1, 2017; 140(11):1460-2156.
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome., Ufartes R,Berger H,Till K,Salinas G,Sturm M,Altmüller J,Nürnberg P,Thiele H,Funke R,Apeshiotis N,Langen H,Wollnik B,Borchers A,Pauli S, Hum Genet. November 1, 2020; 139(11):1432-1203.
The RNA helicase DDX3 induces neural crest by promoting AKT activity., Perfetto M,Xu X,Lu C,Shi Y,Shi Y,Yousaf N,Li J,Yien YY,Wei S, Development. January 19, 2021; 148(2):1477-9129.
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly., Macken WL,Godwin A,Wheway G,Stals K,Nazlamova L,Ellard S,Alfares A,Aloraini T,AlSubaie L,Alfadhel M,Alajaji S,Wai HA,Self J,Douglas AGL,Kao AP,Guille M,Baralle D, Genome Med. February 25, 2021; 13(1):1756-994X.
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.

The splicing factor PQBP1 regulates mesodermal and neural development through FGF signaling., Iwasaki Y,Thomsen GH, Development. October 1, 2014; 141(19):1477-9129.

De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females., Palmer EE,Stuhlmann T,Weinert S,Haan E,Van Esch H,Holvoet M,Boyle J,Leffler M,Raynaud M,Moraine C,van Bokhoven H,Kleefstra T,Kahrizi K,Najmabadi H,Ropers HH,Delgado MR,Sirsi D,Golla S,Sommer A,Pietryga MP,Chung WK,Wynn J,Rohena L,Bernardo E,Hamlin D,Faux BM,Grange DK,Manwaring L,Tolmie J,Joss S,Cobben JM,Duijkers FAM,Goehringer JM,Challman TD,Hennig F,Fischer U,Grimme A,Suckow V,Musante L,Nicholl J,Shaw M,Lodh SP,Niu Z,Rosenfeld JA,Stankiewicz P,Jentsch TJ,Gecz J,Field M,Kalscheuer VM, Mol Psychiatry. February 1, 2018; 23(2):1476-5578.

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features., Niturad CE,Lev D,Kalscheuer VM,Charzewska A,Schubert J,Lerman-Sagie T,Kroes HY,Oegema R,Traverso M,Specchio N,Lassota M,Chelly J,Bennett-Back O,Carmi N,Koffler-Brill T,Iacomino M,Trivisano M,Capovilla G,Striano P,Nawara M,Rzonca S,Fischer U,Bienek M,Jensen C,Hu H,Thiele H,Altmüller J,Krause R,May P,Becker F,Balling R,Biskup S,Haas SA,Nürnberg P,van Gassen KLI,Lerche H,Zara F,Maljevic S,Leshinsky-Silver E, Brain. November 1, 2017; 140(11):1460-2156.

De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome., Ufartes R,Berger H,Till K,Salinas G,Sturm M,Altmüller J,Nürnberg P,Thiele H,Funke R,Apeshiotis N,Langen H,Wollnik B,Borchers A,Pauli S, Hum Genet. November 1, 2020; 139(11):1432-1203.

The RNA helicase DDX3 induces neural crest by promoting AKT activity., Perfetto M,Xu X,Lu C,Shi Y,Shi Y,Yousaf N,Li J,Yien YY,Wei S, Development. January 19, 2021; 148(2):1477-9129.

Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly., Macken WL,Godwin A,Wheway G,Stals K,Nazlamova L,Ellard S,Alfares A,Aloraini T,AlSubaie L,Alfadhel M,Alajaji S,Wai HA,Self J,Douglas AGL,Kao AP,Guille M,Baralle D, Genome Med. February 25, 2021; 13(1):1756-994X.

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.