1.
Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery
by Lubs, Herbert A
American journal of human genetics, 2012, Vol.90 (4), p.579-590
2.
Fine-Scale Survey of X Chromosome Copy Number Variants and Indels Underlying Intellectual Disability
by Whibley, Annabel C
American journal of human genetics, 2010, Vol.87 (2), p.173-188
3.
Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 ( MCT8) Gene
by Schwartz, Charles E
American journal of human genetics, 2005, Vol.77 (1), p.41-53
4.
The original Lujan syndrome family has a novel missense mutation (p.N1007S) in the MED12 gene
by Schwartz, Charles E
Journal of medical genetics, 2007, Vol.44 (7), p.472-477
5.
Structural and Functional Mutations of the Perlecan Gene Cause Schwartz-Jampel Syndrome, with Myotonic Myopathy and Chondrodysplasia
by Arikawa-Hirasawa, Eri
American journal of human genetics, 2002, Vol.70 (5), p.1368-1375
6.
X-Linked Mental Retardation with Seizures and Carrier Manifestations Is Caused by a Mutation in the Creatine-Transporter Gene (SLC6A8) Located in Xq28
by Hahn, Kimberly A
American journal of human genetics, 2002, Vol.70 (5), p.1349-1356
7.
FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing
by Clark, Robin Dawn
Genetics in medicine, 2009, Vol.11 (11), p.769-775
8.
Novel Truncating Mutations in the Polyglutamine Tract Binding Protein 1 Gene ( PQBP1) Cause Renpenning Syndrome and X-Linked Mental Retardation in Another Family with Microcephaly
by Lenski, Claus
American journal of human genetics, 2004, Vol.74 (4), p.777-780
9.
The impact of spermine synthase (SMS) mutations on brain morphology
by Kesler, Shelli R
Neurogenetics, 2009, Vol.10 (4), p.299-305
10.
Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands
by Cathey, S S
Journal of Medical Genetics, 2010, Vol.47 (1), p.38-9
11.
Altered neurodevelopment associated with mutations of RSK2 : a morphometric MRI study of Coffin-Lowry syndrome
by KESLER, Shelli R
Neurogenetics, 2007, Vol.8 (2), p.143-147
12.
Autism and macrocephaly
by Stevenson, Roger E
The Lancet (British edition), 1997, Vol.349 (9067), p.1744-1745
13.
Fragile X syndrome detection in newborns—pilot study
by Saul, Robert A.
Genetics in medicine, 2008, Vol.10 (10), p.714-719
14.
X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27
by Christianson, Arnold L
Journal of Medical Genetics, 1999, Vol.36 (10), p.759-766
15.
The HOPA gene dodecamer duplication is not a significant etiological factor in Autism
by MICHAELIS, Ron C
Journal of autism and developmental disorders, 2000, Vol.30 (4), p.355-358
16.
A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25
by Cabezas, David A
Journal of medical genetics, 2000, Vol.37 (9), p.663-668
17.
SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome
by Gilfillan, Gregor D
American journal of human genetics, 2008, Vol.82 (4), p.1003-1010
18.
Renpenning Syndrome Maps to Xp11
by Stevenson, Roger E
American journal of human genetics, 1998, Vol.62 (5), p.1092-1101
19.
Prevalence of aneuploidies in South Carolina in the 1990s
by Collins, Julianne S.
Genetics in medicine, 2002, Vol.4 (3), p.131-135
20.
A new X linked recessive syndrome of mental retardation and mild dysmorphism maps to Xq28
by Pai, G S
Journal of medical genetics, 1997, Vol.34 (7), p.529-534
