Rick A Martin

Summary

Affiliation: Washington University School of Medicine
Country: USA

Publications

  1. ncbi Ultrasonographic detection of orbicularis oris defects in first degree relatives of isolated cleft lip patients
    R A Martin
    Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA
    Am J Med Genet 90:155-61. 2000
  2. ncbi Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs
    Rick A Martin
    Division of Medical Genetics, Department of Pediatrics, St Louis Children s Hospital, Washington University, St Louis, MO 63110, USA
    Am J Med Genet A 120:23-7. 2003
  3. ncbi LIT1 and H19 methylation defects in isolated hemihyperplasia
    Rick A Martin
    Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA
    Am J Med Genet A 134:129-31. 2005
  4. ncbi A deletion of proximal 20p inherited from a normal mosaic carrier mother in a newborn with panhypopituitarism and craniofacial dysmorphism
    Jaime Garcia-Heras
    Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine in St Louis, St Louis, Missouri 63110, USA
    Clin Dysmorphol 14:137-40. 2005
  5. pmc Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia
    Carol L Clericuzio
    Department of Pediatrics, University of New Mexico Health Sciences Center, 1 University of New Mexico, Albuquerque, NM 87131 0001, USA
    Genet Med 11:220-2. 2009
  6. ncbi 47,XXX associated with malformations
    Carrie E Haverty
    Am J Med Genet A 125:108-11; author reply 112. 2004
  7. ncbi The Pittsburgh Oral-Facial Cleft study: expanding the cleft phenotype. Background and justification
    Seth M Weinberg
    Department of Anthropology, Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania 15219, USA
    Cleft Palate Craniofac J 43:7-20. 2006
  8. ncbi Orbicularis oris muscle defects as an expanded phenotypic feature in nonsyndromic cleft lip with or without cleft palate
    Katherine Neiswanger
    Center for Craniofacial and Dental Genetics, Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, and Department of Pediatric Radiology, Children s Hospital of Pittsburgh, Pennsylvania 15219, USA
    Am J Med Genet A 143:1143-9. 2007

Collaborators

Detail Information

Publications8

  1. ncbi Ultrasonographic detection of orbicularis oris defects in first degree relatives of isolated cleft lip patients
    R A Martin
    Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA
    Am J Med Genet 90:155-61. 2000
    ....
  2. ncbi Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs
    Rick A Martin
    Division of Medical Genetics, Department of Pediatrics, St Louis Children s Hospital, Washington University, St Louis, MO 63110, USA
    Am J Med Genet A 120:23-7. 2003
    ..Salla disease is rare outside of individuals of Finnish ancestry. In this report we describe the disorder in non-Finnish monozygous twin siblings, the first reported American cases of Salla disease...
  3. ncbi LIT1 and H19 methylation defects in isolated hemihyperplasia
    Rick A Martin
    Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA
    Am J Med Genet A 134:129-31. 2005
    ..Eight children (29.6%) had a defect in methylation of one or both of these alleles, supporting our hypothesis that these epigenetic changes can result in a phenotype distinct from typical Beckwith-Wiedemann syndrome...
  4. ncbi A deletion of proximal 20p inherited from a normal mosaic carrier mother in a newborn with panhypopituitarism and craniofacial dysmorphism
    Jaime Garcia-Heras
    Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine in St Louis, St Louis, Missouri 63110, USA
    Clin Dysmorphol 14:137-40. 2005
    ..Our patient expands the spectrum of neurodevelopmental abnormalities associated with haploinsufficiency of band 20p11.2, and is the second deletion of 20p inherited from a normal mosaic carrier mother...
  5. pmc Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia
    Carol L Clericuzio
    Department of Pediatrics, University of New Mexico Health Sciences Center, 1 University of New Mexico, Albuquerque, NM 87131 0001, USA
    Genet Med 11:220-2. 2009
    ..For this reason, molecular diagnostics are not helpful in identifying the subset of isolated hemihyperplasia patients with tumor risk and all isolated hemihyperplasia patients should undergo tumor screening...
  6. ncbi 47,XXX associated with malformations
    Carrie E Haverty
    Am J Med Genet A 125:108-11; author reply 112. 2004
  7. ncbi The Pittsburgh Oral-Facial Cleft study: expanding the cleft phenotype. Background and justification
    Seth M Weinberg
    Department of Anthropology, Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania 15219, USA
    Cleft Palate Craniofac J 43:7-20. 2006
    ....
  8. ncbi Orbicularis oris muscle defects as an expanded phenotypic feature in nonsyndromic cleft lip with or without cleft palate
    Katherine Neiswanger
    Center for Craniofacial and Dental Genetics, Department of Oral Biology, School of Dental Medicine, University of Pittsburgh, and Department of Pediatric Radiology, Children s Hospital of Pittsburgh, Pennsylvania 15219, USA
    Am J Med Genet A 143:1143-9. 2007
    ..Furthermore, the expansion of the cleft lip+/-cleft palate phenotypic spectrum should improve the power of genetic studies...