Radiological evaluation of dysmorphic thorax of paternal uniparental disomy 14

[1]  A. Superti-Furga,et al.  Asphyxiating Thoracic Dysplasia (Mim 208500) , 2012 .

[2]  A. Offiah,et al.  Segmental paternal uniparental disomy (patUPD) of 14q32 with abnormal methylation elicits the characteristic features of complete patUPD14 , 2010, American journal of medical genetics. Part A.

[3]  G. Nishimura,et al.  Prenatal findings of paternal uniparental disomy 14: Report of four patients , 2010, American journal of medical genetics. Part A.

[4]  A. Ferguson-Smith,et al.  Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes , 2008, Nature Genetics.

[5]  C. L. Hermansen,et al.  Respiratory distress in the newborn. , 2007, American family physician.

[6]  T. Liehr,et al.  Paternal uniparental isodisomy for chromosome 14 with mosaicism for a supernumerary marker chromosome 14 , 2007, American journal of medical genetics. Part A.

[7]  T. Ogata,et al.  Segmental and full paternal isodisomy for chromosome 14 in three patients: Narrowing the critical region and implication for the clinical features , 2005, American journal of medical genetics. Part A.

[8]  P. Bayrak-Toydemir,et al.  Paternal uniparental disomy of chromosome 14: Confirmation of a clinically‐recognizable phenotype , 2004, American journal of medical genetics. Part A.

[9]  D. Kotzot.  Advanced parental age in maternal uniparental disomy (UPD): implications for the mechanism of formation , 2004, European Journal of Human Genetics.

[10]  L. Shaffer,et al.  Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12) , 2003, Human Genetics.

[11]  C. Alliot,et al.  Case Report and Review , 2003 .

[12]  A. Offiah,et al.  Paternal uniparental disomy 14: introducing the 'coat-hanger' sign , 2003, Pediatric Radiology.

[13]  Y. Kuroki,et al.  Paternal UPD14 is responsible for a distinctive malformation complex. , 2002, American journal of medical genetics.

[14]  D. Towner,et al.  Prenatal ultrasound findings in a fetus with paternal uniparental disomy 14q12‐qter , 2001, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[15]  M. Surani,et al.  Parental origin-specific developmental defects in mice with uniparental disomy for chromosome 12. , 2000, Development.

[16]  K. Hirschhorn,et al.  Paternal uniparental disomy for chromosome 14: a case report and review. , 1997, American journal of medical genetics.

[17]  L. Swischuk.  Imaging of the Newborn, Infant, and Young Child , 1989 .

[18]  L. Swischuk.  Respiratory distress in the newborn. , 1969, Postgraduate medicine.