Anne Lienhardt

Summary

Affiliation: CHU Dupuytren
Country: France

Publications

  1. ncbi request reprint A rare cause of fetal ascites: A case report of Günther's disease
    A Lienhardt
    Service de pédiatrie II, hôpital Dupuytren, Limoges, France
    Fetal Diagn Ther 14:257-61. 1999
  2. ncbi request reprint A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia
    A Lienhardt
    Service de Pediatrie 2, Centre Hospitalier Universitaire, Limoges, France
    J Clin Endocrinol Metab 85:1695-702. 2000
  3. ncbi request reprint Activating mutations of the calcium-sensing receptor: management of hypocalcemia
    A Lienhardt
    Service de Pediatrie, Centre Hospitalier Universitaire, 87042 Limoges, France
    J Clin Endocrinol Metab 86:5313-23. 2001
  4. ncbi request reprint IMAGe association: additional clinical features and evidence for recessive autosomal inheritance
    Anne Lienhardt
    Service d endocrinologie pédiatrique, Hopital Saint Vincent de Paul, Paris, France
    Horm Res 57:71-8. 2002
  5. ncbi request reprint Amplitude of pubertal growth in short stature children with intrauterine growth retardation
    Anne Lienhardt
    Service d endocrinologie pédiatrique, Hopital Saint Vincent de Paul, Paris, France
    Horm Res 57:88-94. 2002
  6. ncbi request reprint Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations
    Shoji Ichikawa
    Department of Medicine, Indiana University School of Medicine, 541 North Clinical Drive, Clinical Building 459, Indianapolis, IN 46202 5121, USA
    J Clin Endocrinol Metab 92:1943-7. 2007

Collaborators

Detail Information

Publications6

  1. ncbi request reprint A rare cause of fetal ascites: A case report of Günther's disease
    A Lienhardt
    Service de pédiatrie II, hôpital Dupuytren, Limoges, France
    Fetal Diagn Ther 14:257-61. 1999
    ..The infant was found to carry the mutation associated with the most severe disease phenotype in which fetal hydrops has been described...
  2. ncbi request reprint A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia
    A Lienhardt
    Service de Pediatrie 2, Centre Hospitalier Universitaire, Limoges, France
    J Clin Endocrinol Metab 85:1695-702. 2000
    ..This novel mutation in the CaSR gene provides the first known examples of a large naturally occurring deletion within a G-protein-coupled receptor's carboxylterminal-tail and of a homozygous, affected individual with ADH...
  3. ncbi request reprint Activating mutations of the calcium-sensing receptor: management of hypocalcemia
    A Lienhardt
    Service de Pediatrie, Centre Hospitalier Universitaire, 87042 Limoges, France
    J Clin Endocrinol Metab 86:5313-23. 2001
    ..Treatment options should be weighed carefully in patients with serum Ca below 1.95 mmol/liter. The risk of nephrocalcinosis during treatment can be minimized by carefully monitoring urinary Ca excretion...
  4. ncbi request reprint IMAGe association: additional clinical features and evidence for recessive autosomal inheritance
    Anne Lienhardt
    Service d endocrinologie pédiatrique, Hopital Saint Vincent de Paul, Paris, France
    Horm Res 57:71-8. 2002
    ..If this symptom is part of the syndrome, which we cannot assume, it could help to localize the candidate gene...
  5. ncbi request reprint Amplitude of pubertal growth in short stature children with intrauterine growth retardation
    Anne Lienhardt
    Service d endocrinologie pédiatrique, Hopital Saint Vincent de Paul, Paris, France
    Horm Res 57:88-94. 2002
    ..Pubertal growth contributes to 15-18% of adult height. A blunted pubertal peak could contribute to short adult height in short children born with intrauterine growth retardation (IUGR)...
  6. ncbi request reprint Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations
    Shoji Ichikawa
    Department of Medicine, Indiana University School of Medicine, 541 North Clinical Drive, Clinical Building 459, Indianapolis, IN 46202 5121, USA
    J Clin Endocrinol Metab 92:1943-7. 2007
    ..Familial tumoral calcinosis (TC), characterized by ectopic calcifications and hyperphosphatemia, is caused by mutations in the GALNT3 or fibroblast growth factor 23 (FGF23) genes...