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Federal committee supports adding Pompe disease to screening panel
Supreme court strikes down certain gene patents
Gene therapy shows potential as Usher syndrome treatment
In this issue
Exudative retinopathy, cerebral calcifications, duodenal atresia, preaxial polydactyly, micropenis, microcephaly and short stature: A new syndrome?
The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes
Further delineation of genotype–phenotype correlation in homozygous 2p21 deletion syndromes: First description of patients without cystinuria
Altered lipid metabolism in gastroschisis: A novel hypothesis
Non-trisomic homeobox gene expression during craniofacial development in the Ts65Dn mouse model of Down syndrome
Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I
9p partial monosomy and disorders of sex development: Review and postulation of a pathogenetic mechanism
High MMP-9 activity levels in fragile X syndrome are lowered by minocycline
A unique case of de novo 5q33.3–q34 triplication with uniparental isodisomy of 5q34–qter
Increased fracture risk and low bone mineral density in patients with loeys–dietz syndrome
A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian family
Insertional translocation leading to a 4q13 duplication including the EPHA5 gene in two siblings with attention-deficit hyperactivity disorder
Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy
Orthopedic manifestations and implications for individuals with Costello syndrome
Customized high resolution CGH-array for clinical diagnosis reveals additional genomic imbalances in previous well-defined pathological samples
An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome
Osteogenesis imperfecta type V: Clinical and radiographic manifestations in mutation confirmed patients
A recurrent mutation in the 5′-UTR of IFITM5 causes osteogenesis imperfecta type V
Dr. Peter Emil Becker and the Third Reich
Hemifacial microsomia in cat-eye syndrome: 22q11.1–q11.21 as candidate loci for facial symmetry
Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: A unique double rearrangement
Richieri-costa and Pereira syndrome: Severe phenotype
Another patient with 12q13 microduplication
Interstitial 6q microdeletion syndrome and epilepsy: A new patient and review of the literature
Duplication of AKT3 as a cause of macrocephaly in duplication 1q43q44
Severe infantile leigh syndrome associated with a rare mitochondrial ND6 mutation, m.14487T>C
Craniosynostosis and radial ray defect: A rare presentation of 22q11.2 deletion syndrome
Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation
Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication
Myoclonic epilepsy in a child with 17q22–q23.1 deletion
A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with marfan and loeys–dietz syndrome
Juvenile idiopathic arthritis, mitral valve prolapse and a familial variant involving the integrin-binding fragment of FBN1
Evaluating the frequency and characteristics of seizures in 142 Japanese patients with prader–willi syndrome
A mother and daughter with a novel phenotype of hand and foot abnormalities and severe pectus excavatum
Confirmation of GRHL2 as the gene for the DFNA28 locus
Pelger–huet anomaly and a mild skeletal phenotype secondary to mutations in LBR
Camurati–engelmann disease with obesity in a newly identified family carrying a missense p.Arg156Cys mutation in the TGFB1 gene
Microdeletions of 5.5 Mb (4q13.2–q13.3) and 4.1 Mb (7p15.3–p21.1) associated with a saethre–chotzen-like phenotype, severe intellectual disability, and autism
Homozygous deletion in TUSC3 causing syndromic intellectual disability: A new patient
A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia
Risk terminology in biobanking and genetic research: What's in a name?
Empirical research on the ethics of genomic research
GAPO syndrome associated with vestibular dysfunction and hearing loss
Adrenal hypoplasia congenita with phenotypic features suggestive of neurofibromatosis type 1 among three African-American brothers
ISCN 2013: An International System for Human Cytogenetic Nomenclature (2013). Shaffer LG, McGowan-Jordan J, Schmid M, editors. Published in collaboration with Cytogenetic and Genome Research by Karger, Basel. VI and 140 pp. plus fold-out, 11 Fig. 4 tables.
Body mass index (BMI): The case for condition-specific cut-offs for overweight and obesity in skeletal dysplasias
Nomenclature in macrocephaly–capillary malformation Syndrome
The “megalencephaly-capillary malformation” (MCAP) syndrome: The nomenclature of a highly recognizable multiple congenital anomaly syndrome