• Publications
  • Influence
Medical complications of achondroplasia: a multicentre patient review.
Achondroplasia is the most prevalent chondrodysplasia and numerous authors have documented the varied social and medical complications that may compromise a full and productive life. ComplicationsExpand
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A randomized trial comparing alternative approaches to prenatal diagnosis counseling in advanced maternal age patients
Prenatal diagnosis (PND) is offered routinely as part of pregnancy care to a large number of women at increased risk of fetal anomalies. Despite an extraordinary growth in the use of PND andExpand
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Simpson-Golabi-Behmel syndrome: genotype/phenotype analysis of 18 affected males from 7 unrelated families.
Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked overgrowth disorder recently shown to be caused by mutations in the heparan sulfate proteoglycan GPC3 [Pilia et al., Nat Genet; 12:241-247 1996].Expand
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Elements of morphology: Standard terminology for the ear
TLDR
An international group of clinicians working in the field of dysmorphology has initiated the standardization of terms used to describe human morphology. Expand
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Craniosynostosis. I. Sagittal synostosis: its genetics and associated clinical findings in 214 patients who lacked involvement of the coronal suture(s).
The clinical and genetic findings in 214 patients with sagittal synostosis are described. Seventy-three per cent of the patients were male. Children with sagittal synostosis were treated earlier thanExpand
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A preliminary validation of a family history assessment form to select women at risk for breast or ovarian cancer for referral to a genetics center
The medical community and general population have become aware that genetic testing is available to look for BRCA1 and BRCA2 mutations. However, criteria for who should be referred for geneticExpand
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The correlation of age of onset with CTG trinucleotide repeat amplification in myotonic dystrophy.
The gene for myotonic dystrophy (DM) has recently been isolated and amplification of an unstable CTG trinucleotide repeat, located within the DM gene, has been identified in virtually all patientsExpand
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Craniosynostosis. II. Coronal synostosis: its familial characteristics and associated clinical findings in 109 patients lacking bilateral polysyndactyly or syndactyly.
This paper is the second part of a survey of 370 patients with craniosynostosis. It concerns 109 patients with coronal synostosis, with or without additional suture involvement who lackedExpand
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Limb–body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies?
Aside from gastroschisis and omphalocele, major defects of the ventral body (thoracoabdominal) wall are relatively uncommon and almost universally lethal. They are most often associated with otherExpand
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Outcome of the routine assessment of patients with mental retardation in a genetics clinic.
  • A. Hunter
  • Medicine
  • American journal of medical genetics
  • 3 January 2000
This study reviewed hospital and genetics clinic records of 411 patients evaluated in our department from 1986 to 1997 inclusive. Major objectives were to establish how often and under whatExpand
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