Disease: McGillivray syndrome
- 19p13.2 microduplication causes a Sotos syndrome-like phenotype and alters gene expression
- 5q31.3 Microdeletion syndrome: clinical and molecular characterization of two further cases
- A Clinical Classification Scheme for Tracheobronchomegaly (Mounier-Kuhn Syndrome)
- A grandpaternally derived de novo deletion within Xp21 initially presenting in carrier females diagnosed as Kugelberg-Welander syndrome
- A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3
- A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disorders
- A Roberts Syndrome Individual With Differential Genotoxin Sensitivity and a DNA Damage Response Defect
- A severe phenotype of Gitelman syndrome with increased prostaglandin excretion and favorable response to indomethacin
- Absence of HIV infection in prostitutes and women attending sexually-transmitted disease clinics in South Africa
- Additional deletion in sex-determining region of human Y chromosome resolves paradox of X,t(Y;22) female
- An indirect fluorescent antibody test for antibodies against HTLV-III
- Apert syndrome: temporal lobe abnormalities on fetal brain imaging
- Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation
- Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects
- Bleeding diathesis in Noonan syndrome: a common association
- BPES with atypical premature ovarian insufficiency, and evidence of mitotic recombination, in a woman with trisomy X and a translocation t(3;11)(q22.3;q14.1)
- Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus
- Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1
- Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome
- Clinical variability within Brachmann-de Lange syndrome: a proposed classification system
- Complete androgen insensitivity with a normal amount of 5 alpha-dihydrotestosterone-binding activity in labium majus skin fibroblasts
- Contemporary prenatal aneuploidy screening practice in Australia: Frequently asked questions in the cell-free DNA era
- Cytogenetic findings in over 2000 amniocenteses
- Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice
- Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions
- Dicentric Y chromosome and mixed dysgenesis
- Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome
- Duty to re-contact: a study of families at risk for Fragile X
- EML1-associated brain overgrowth syndrome with ribbon-like heterotopia
- Epidemiological considerations of the present status and future growth of the acquired immunodeficiency syndrome epidemic in South Africa
- Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer
- Evaluating a unique, specialist psychiatric genetic counseling clinic: uptake and impact
- Evaluation of a "dip-stick" methodology for detection of antibodies to HIV1
- Evidence for multi-site closure of the neural tube in humans
- Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms
- Expanding the clinical phenotype of hereditary BAP1 cancer predisposition syndrome, reporting three new cases
- Familial clefting syndrome with ectropion and dental anomaly--without limb anomalies
- Familial renal hypophosphatemia, minor facial anomalies, intracerebral calcifications, and non-rachitic bone changes: apparently new syndrome?
- Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain
- Fetal phenotype of 17q12 microdeletion syndrome: renal echogenicity and congenital diaphragmatic hernia in 2 cases
- Further case of Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy
- Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients
- Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome
- Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
- Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients
- Genotype-phenotype analysis of 4q deletion syndrome: proposal of a critical region
- Group cognitive behavioural therapy program shows potential in reducing symptoms of depression and stress among young people with ASD
- HIV-2 infection in South Africa
- Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome
- Increased left hemisphere impairment in high-functioning autism: a tract based spatial statistics study
- Increased premotor cortex activation in high functioning autism during action observation
- Infantile autism: an occasional manifestation of fragile (X) mental retardation
- Isodicentric Yp: prenatal diagnosis and outcome in 12 cases
- Klinefelter Syndrome: What should we tell prospective parents?
- Lack of evidence of HTLV-III endemicity in southern Africa
- Life-history chronicle for a patient with the recently described chromosome 4q21 microdeletion syndrome
- Methylation profiling in individuals with Russell-Silver syndrome
- Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11
- Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome
- Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division
- Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth
- Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics
- Normal male carriers in the fra(X) form of X-linked mental retardation (Martin-Bell syndrome)
- Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14
- Perinatal and first year follow-up of patients with Prader-Willi syndrome: normal size of hands and feet
- Perinatal outcome following suspected fetal abnormality when managed through a fetal management unit
- Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene
- Periventricular heterotopia in common microdeletion syndromes
- Phenotypic variability of distal 22q11.2 copy number abnormalities
- Poland syndrome in British Columbia: incidence and reproductive experience of affected persons
- Polymicrogyria associated with 17p13.3p13.2 duplication: Case report and review of the literature
- Precise localisation of 3p25 breakpoints in four patients with the 3p-syndrome
- Prenatal diagnosis of 45,X/46,XX mosaicism and 45,X: implications for postnatal outcome
- Prenatal magnetic resonance imaging in Gomez-Lopez-Hernandez syndrome and review of the literature
- Reconstructing hominid Y evolution: X-homologous block, created by X-Y transposition, was disrupted by Yp inversion through LINE-LINE recombination
- Sero-epidemiology of HTLV-III antibody in southern Africa
- Severe connective tissue laxity including aortic dilatation in Sotos syndrome
- Sex differences in neurodevelopmental disorders
- Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH
- The 12q14 microdeletion syndrome: additional patients and further evidence that HMGA2 is an important genetic determinant for human height
- The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: two new reports
- The genetic architecture of Down syndrome phenotypes revealed by high-resolution analysis of human segmental trisomies
- Transmission of the fra(X) haplotype from three nonpenetrant brothers to their affected grandsons
- Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt
- Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A
- Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype
- Williams syndrome in adults
- X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease