|1|Heterozygous somatic activating AKT1 mutation in a case of Proteus syndrome with mental retardation. (24387135)
Yang Z.... Ma L.
|2|Eosinophilic meningitis caused by Angiostrongylus cantonensis in an adolescent with mental retardation and pica disorder. (23445744)
Hsueh C.W.... Chen Y.W.
|3|Sporadic juvenile amyotrophic lateral sclerosis caused by mutant FUS/TLS: possible association of mental retardation with this mutation. (22057404)
Yamashita S.... Hirano T.
|4|Homozygous deletion of an 80 kb region comprising part of DNAJC6 and LEPR genes on chromosome 1P31.3 is associated with early onset obesity, mental retardation and epilepsy. (22647716)
Vauthier V.... Dam J.
|5|Complex chromosome rearrangement 46,XY, der(9)t(Y;9)(q12;p23) in a girl with sex reversal and mental retardation. (20974486)
Lee I.W.... Lin S.J.
|6|Homozygosity mapping in outbred families with mental retardation. (21248743)
Schuurs-Hoeijmakers J.H.... de Vries B.B.
|7|X-linked mental retardation with alacrima and achalasia-Triple A syndrome or a new syndrome? (21744492)
Marom D.... Basel-Vanagaite L.
|8|Altered mRNA transport, docking, and protein translation in neurons lacking fragile X mental retardation protein. (20713728)
Kao D.I.... Greenough W.T.
|9|Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax. (19291773)
Lugtenberg D.... Bongers E.M.
|10|Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. (19736351)
Guilmatre A.... Campion D.
|11|A quantitative assessment of gene expression (QAGE) reveals differential overexpression of DOPEY2, a candidate gene for mental retardation, in Down syndrome brain regions. (19460634)
Rachidi M.... Lopes C.
|12|De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. (19557857)
Hamdan F.F.... Michaud J.L.
|13|A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. (18278044)
Sharp A.J.... Eichler E.E.
|14|Anassociation study between OPHN1 gene rs492933 polymorphism and mental retardation in children of the Qinba Mountain region.]. (18930891)
Zhang L.J.... Zhang F.C.
|15|Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutation. (17603797)
Battini R.... Cioni G.
|16|A microduplication of CBP in a patient with mental retardation and a congenital heart defect. (17702016)
Thienpont B.... Devriendt K.
|17|Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. (17478476)
Brockschmidt A.... Weber R.G.
|18|Dynamic translational and proteasomal regulation of fragile X mental retardation protein controls mGluR-dependent long-term depression. (16908410)
Hou L.... Klann E.
|19|Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. (16896345)
Klopocki E.... Ullmann R.
|20|CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. (16611748)
Archer H.L.... Osborne J.
|21|Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. (16249884)
Hagens O.... Hanauer A.
|22|Alpha thalassaemia-mental retardation, X linked. (16722615)
|23|Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. (16541399)
Tzschach A.... Jensen L.R.
|24|Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. (17100996)
Field M.... Turner G.
|25|Mental retardation in a boy with anterior cervical hypertrichosis. (15800907)
Corona-Rivera J.R.... Corona-Rivera A.
|26|The roles of Sp1, Sp3, USF1/USF2 and NRF-1 in the regulation and three-dimensional structure of the Fragile X mental retardation gene promoter. (15479157)
Kumari D.... Usdin K.
|27|Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation. (15915161)
Mansouri M.R.... Dahl N.
|28|Rho GTPases, dendritic structure, and mental retardation. (15884002)
Newey S.E.... Van Aelst L.
|29|Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. (15627943)
Mirzaa G.... Dobyns W.B.
|30|A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation. (15173243)
Genevieve D.... Cormier-Daire V.
|31|Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2. (15300451)
Mochizuki Y.... Morimatsu Y.
|32|The N-terminus of the fragile X mental retardation protein contains a novel domain involved in dimerization and RNA binding. (12950170)
Adinolfi S.... Pastore A.
|33|Transport of fragile X mental retardation protein via granules in neurites of PC12 cells. (12417734)
De Diego Otero Y.... Willemsen R.
|34|Activity-dependent regulation of genes implicated in X-linked non-specific mental retardation. (12207950)
Boda B.... Muller D.
|35|Penis agenesis associated with mental retardation: a case report. (12549651)
Kargi E.... Mungan A.
|36|Neuropeptides and neurotrophins in neonatal blood of children with autism or mental retardation. (11357950)
Nelson K.B.... Phillips T.M.
|37|Molecular cytogenetic characterization of a small, familial supernumerary ring chromosome 7 associated with mental retardation and an abnormal phenotype. (10797441)
Tan-Sindhunata G.... van Essen A.J.
|38|Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. (11017088)
Kutsche K.... Gal A.
|39|Oligomerization properties of fragile-X mental-retardation protein (FMRP) and the fragile-X-related proteins FXR1P and FXR2P. (10527928)
Tamanini F.... Hoogeveen A.T.
|40|Rapid immunoblot and kinase assay tests for a syndromal form of X linked mental retardation: Coffin-Lowry syndrome. (9832033)
Merienne K.... Hanauer A.
|41|MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to xp21.1-p22.13. (9781023)
SteinmA1ller R.... MA1ller U.
|42|Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation. (9727739)
WeissAPrtel R.... Meitinger T.
|43|Two cases of essential myoclonus, epilepsy, mental retardation and anxiety disorders. (9339874)
Nezu A.... Tanaka M.
|44|Sertraline response in adults with mental retardation and autistic disorder. (8778118)
Hellings J.A.... Shah P.
|45|Protein truncation test: analysis of two novel point mutations at the carboxy-terminus of the human dystrophin gene associated with mental retardation. (7581396)
Tuffery S.... Claustres M.
|46|Blepharophimosis, ptosis and mental retardation: further delineation of Ohdo syndrome. (7519949)
|47|Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophy. (1877622)
Rapaport D.... Zatz M.
|48|Pigmentary retinopathy, hearing loss, mental retardation, and dysmorphism in sibs: a new syndrome? (7139098)
Hersh J.H.... Weisskopf B.
|49|The Coffin-Lowry syndrome: a simply inherited trait comprising mental retardation, faciodigital anomalies and skeletal involvement. (1201338)
Temtamy S.A.... Kenyon K.R.
|50|The Rud syndrome: ichthyosis, hypogonadism, mental retardation. (5173271)
Nissley P.S.... Thomas G.H.