The core FOXG1 syndrome phenotype consists of postnatal microcephal...
... The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation ... postnatal growth deficiency, severe postnatal microcephaly, severe mental retardation with absent language ... The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation ... The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation ... The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation ...
The involvement of epigenetic defects in mental retardation - Zuric...
... The involvement of epigenetic defects in mental retardation Franklin, T B ; Mansuy, I M (2011). The ... involvement of epigenetic defects in mental retardation. Neurobiology of Learning and Memory, 96(1):61-67 ... The involvement of epigenetic defects in mental retardation - Zurich Open Repository and Archive ... The involvement of epigenetic defects in mental retardation - Zurich Open Repository and Archive ... The involvement of epigenetic defects in mental retardation - Zurich Open Repository and Archive ...
Blepharophimosis and mental retardation (BMR) phenotypes caused by ...
... Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements ... retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy ... Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements ... Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements ... Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements ...
Atypical clinical presentations of TAZ mutations: an underdiagnosed...
... aciduria. Furthermore, growth retardation, mild skeletal myopathy, and specific facial features as well as ... male patients initially presenting with growth retardation and very mild skeletal myopathy. As other ... Atypical clinical presentations of TAZ mutations: an underdiagnosed cause of growth retardation ... Atypical clinical presentations of TAZ mutations: an underdiagnosed cause of growth retardation ... Atypical clinical presentations of TAZ mutations: an underdiagnosed cause of growth retardation ...
BCOR analysis in patients with OFCD and Lenz microphthalmia syndrom...
... anomalies and mental retardation. The two syndromes are allelic, caused by mutations in the BCL-6 ... and mental retardation. The two syndromes are allelic, caused by mutations in the BCL-6 corepressor ... BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ... BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ... BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ...
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-l...
... CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and ... and NRXN1 in four patients with severe mental retardation (MR) and variable features, such as autistic ... CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and ... CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and ... CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and ...
Disruption of ST5 is associated with mental-retardation and multipl...
... Disruption of ST5 is associated with mental- retardation and multiple congenital anomalies We ... ;q13.2) presenting with severe mental retardation, muscular hypotonia, seizures, bilateral sensorineural ... Disruption of ST5 is associated with mental- retardation and multiple congenital anomalies - Zurich ... Disruption of ST5 is associated with mental- retardation and multiple congenital anomalies - Zurich ... Disruption of ST5 is associated with mental- retardation and multiple congenital anomalies - Zurich ...
Dosage-dependent severity of the phenotype in patients with mental ...
... Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent ... unrelated families with X-linked mental retardation (MR). All aberrations segregate with the disease in the ... Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent ... Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent ... Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent ...
Characterization of interstitial Xp duplications in two families by...
... Family A, we detected a duplication of 9.3 Mb in Xp11p21 in a male with severe mental retardation ... mental retardation, obesity, macrocephaly--are in accordance with those of a previously reported patient ... duplication of 9.3 Mb in Xp11p21 in a male with severe mental retardation [karyotype 46,XY,dup(X)(p11.3p21.1 ... )] and his healthy mother. The clinical features of this patient--severe mental retardation, obesity ...
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region...
... mental retardation and diminish MECP2 and CDKL5 expression Zweier, M ; Rauch, A ; et al (2010). Mutations ... retardation and diminish MECP2 and CDKL5 expression. Human Mutation, 31(6):722-733. Copy Abstract The etiology ... mental retardation and diminish MECP2 and CDKL5 expression - Zurich Open Repository and Archive Header ... 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 ...
