Martine Le Merrer

Martine Le Merrer

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Martine Le Merrer

Publications by authors named "Martine Le Merrer"

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Craniovertebral junction anomalies in achondroplastic children.

Adv Tech Stand Neurosurg 2014 ;40:295-312

Pediatric Neurosurgical Departement, Hôpital Necker-Enfants Malades, APHP, 149, Rue de Sèvres, Paris, 75743, France.

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http://dx.doi.org/10.1007/978-3-319-01065-6_10DOI Listing
April 2016

Efficacy and safety of growth hormone treatment in children with hypochondroplasia: comparison with an historical cohort.

Horm Res Paediatr 2014 15;82(6):355-63. Epub 2014 Oct 15.

Pediatric Endocrinology, Gynecology and Diabetes, Centre des Maladies Endocriniennes Rares de la Croissance, Hôpital Universitaire Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1159/000364807DOI Listing
October 2015

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.

Pediatr Radiol 2015 Jul 3;45(7):965-76. Epub 2015 Feb 3.

Genetic Department, Referral Centre for Developmental Abnormalities, Femme-Mère-Enfant Hospital, Hospices Civils de Lyon, 59 boulevard Pinel, 69677, Bron cedex, France.

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http://link.springer.com/content/pdf/10.1007/s00247-014-3257
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http://link.springer.com/10.1007/s00247-014-3257-9
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http://dx.doi.org/10.1007/s00247-014-3257-9DOI Listing
July 2015

Fibrous dysplasia and McCune-Albright syndrome: imaging for positive and differential diagnoses, prognosis, and follow-up guidelines.

Eur J Radiol 2014 Oct 30;83(10):1828-42. Epub 2014 Jun 30.

Rhumatologie Viggo Petersen, AP-HP, Hôpital Lariboisière, 2 rue Ambroise Paré, 75010 Paris, France; Université Paris VII Denis Diderot, Sorbonne Paris Cité, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejrad.2014.06.012DOI Listing
October 2014

Clinical utility gene card for: hypophosphatasia - update 2013.

Eur J Hum Genet 2014 Apr 7;22(4). Epub 2013 Aug 7.

U781 et Département de Génétique, Centre de Référence des Maladies Osseuses Constitutionnelles, Hopital Necker-Enfant Malades, Paris, France.

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http://dx.doi.org/10.1038/ejhg.2013.177DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953904PMC
April 2014

Ischiovertebral dysplasia: a retrospective analysis of 30 consecutive cases pointing out the specifics and risks of the spine management.

Spine (Phila Pa 1976) 2014 Apr;39(9):E564-75

*Department of Pediatric Orthopedics, Necker Enfants Malades Hospital, AP-HP, University Paris Descartes, Paris, France †Department of Orthopedic Surgery and Traumatology, Columbia University Medical Center, New York, NY ‡Department of Pediatric Orthopedics, Saint Vincent de Paul Hospital, AP-HP, University Paris Descartes, Paris, France; and §Department of Genetics, Necker Enfants Malades Hospital, AP-HP, University Paris Descartes, Paris, France.

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http://dx.doi.org/10.1097/BRS.0000000000000260DOI Listing
April 2014

Dysspondyloenchondromatosis without COL2A1 mutation: possible genetic heterogeneity.

Am J Med Genet A 2014 Mar 19;164A(3):769-73. Epub 2013 Dec 19.

Département de Génétique Médicale, Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs Sud-Languedoc Roussillon, CHRU Montpellier, Faculté de Médecine Université Montpellier 1, Montpellier, France.

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http://dx.doi.org/10.1002/ajmg.a.36331DOI Listing
March 2014

The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variability.

Am J Med Genet A 2013 Dec 16;161A(12):3023-9. Epub 2013 Aug 16.

Département de génétique, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.36151DOI Listing
December 2013

Mucopolysaccharidosis type I and craniosynostosis.

Acta Neurochir (Wien) 2013 Oct 6;155(10):1973-6. Epub 2013 Aug 6.

Craniofacial Unit, Department of Pediatric Neurosurgery, Hôpital Universitaire Necker-Enfants Malades, APHP, 149 Rue de Sèvres, 75015, Paris, France,

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http://dx.doi.org/10.1007/s00701-013-1831-9DOI Listing
October 2013

Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: two newly recognized patients with premature aging syndrome, Penttinen type.

Am J Med Genet A 2013 Jul 29;161A(7):1786-91. Epub 2013 May 29.

Université Paris Descartes, Département de Génétique et INSERM U781, Centre de référence Maladies osseuses constitutionnelles, AP-HP, Hôpital Necker-Enfants Malades, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.35984DOI Listing
July 2013

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.

Am J Hum Genet 2013 Jan 27;92(1):144-9. Epub 2012 Dec 27.

Département de Génétique, Unité INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Fondation Imagine, Hôpital Necker Enfants Malades, Paris 75015, France.

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http://dx.doi.org/10.1016/j.ajhg.2012.11.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3542463PMC
January 2013

Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome.

Eur J Med Genet 2012 Feb 27;55(2):103-8. Epub 2011 Nov 27.

Unité de Génétique Médicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon.

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http://dx.doi.org/10.1016/j.ejmg.2011.11.003DOI Listing
February 2012

Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2.

Hum Mutat 2011 Nov 12;32(11):1239-42. Epub 2011 Sep 12.

CHU Nantes, Service de Génétique Médicale, Nantes, France.

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http://dx.doi.org/10.1002/humu.21563DOI Listing
November 2011

Spondyloepimetaphyseal dysplasia, short limb-abnormal calcifications type: progressive radiological findings from fetal age to adolescence.

Pediatr Radiol 2011 Oct 5;41(10):1298-307. Epub 2011 Aug 5.

Department of Radiology, Hadassah-Hebrew University Medical Center, Jerusalem 91120, Israel.

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http://dx.doi.org/10.1007/s00247-011-2123-2DOI Listing
October 2011

Expanding the skeletal phenotype of Loeys-Dietz syndrome.

Am J Med Genet A 2011 May 11;155A(5):1178-83. Epub 2011 Apr 11.

Department of Medical Genetics, Université Paris Descartes, INSERM U, Hôpital Necker-Enfants Malades, France.

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http://dx.doi.org/10.1002/ajmg.a.33813DOI Listing
May 2011

Clinical utility gene card for: hypophosphatasia.

Eur J Hum Genet 2011 Mar 27;19(3). Epub 2010 Oct 27.

Unité de Pathologie Cellulaire et Génétique UPRES-EA2493, Faculté de Médecine Paris Ile de France Ouest PRES Universud Paris, University of Versailles Saint Quentin en Yvelines, Versailles, France.

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http://dx.doi.org/10.1038/ejhg.2010.170DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3061990PMC
March 2011

Crouzon syndrome with acanthosis nigricans: a case-based update.

Childs Nerv Syst 2011 Mar 7;27(3):349-54. Epub 2010 Dec 7.

Unité de Chirurgie Craniofaciale, Neurochirurgie Pédiatrique Hôpital Necker Enfants Malades, Centre de Référence Maladies rares Dysostoses Craniofaciales, 149 rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1007/s00381-010-1347-zDOI Listing
March 2011

Scalp nodules as a presenting sign of fibrodysplasia ossificans progressiva: a register-based study.

J Am Acad Dermatol 2011 Jan 5;64(1):97-101. Epub 2010 Nov 5.

Department of Dermatology, Groupe Hospitalier Necker Enfants-Malades, Paris, France.

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http://dx.doi.org/10.1016/j.jaad.2010.04.025DOI Listing
January 2011

CEMARA an information system for rare diseases.

Stud Health Technol Inform 2010 ;160(Pt 1):481-5

Paris Descartes University, Faculty of Medicine, AP-HP, EA 4067, Department of biostatistics and computer sciences, and Department of genetics, Dermatology unit Necker-Enfants Malades Hospital, Paris, France.

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December 2010

Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy.

Am J Med Genet A 2010 Jun;152A(6):1550-4

Clinical Genetic Department, Nantes University Hospital, Nantes Cedex, France.

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http://dx.doi.org/10.1002/ajmg.a.33397DOI Listing
June 2010

Cone-rod dystrophy, growth hormone deficiency and spondyloepiphyseal dysplasia: report of a new case without nephronophtisis.

Am J Med Genet A 2009 Feb;149A(4):788-92

Clinical Genetic Department, Nantes University Hospital, Nantes, France.

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http://dx.doi.org/10.1002/ajmg.a.32343DOI Listing
February 2009

Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.

Am J Hum Genet 2009 Jan 24;84(1):80-4. Epub 2008 Dec 24.

Department of Human Genetics, Hadassah Hebrew University Hospital, POB 12000, Jerusalem, 91120, Israel.

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http://dx.doi.org/10.1016/j.ajhg.2008.12.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668047PMC
January 2009

Infantile cortical hyperostosis (Caffey disease): a review.

J Oral Maxillofac Surg 2008 Oct;66(10):2145-50

Hôpital Necker, Paris, France.

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http://dx.doi.org/10.1016/j.joms.2007.09.007DOI Listing
October 2008

CEMARA: a Web dynamic application within a N-tier architecture for rare diseases.

Stud Health Technol Inform 2008 ;136:51-6

Paris Descartes University, UPRESS EA 4067 and Service de Biostatistique et d'Informatique Médicale, APHP - Necker-Enfants Malades Hospital, Paris - France.

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September 2008

A new osteogenesis imperfecta with improvement over time maps to 11q.

Am J Med Genet A 2008 Jul;146A(14):1807-14

Paris Descartes University, Inserm U781, Hôpital Necker-Enfants Malades, Paris Cedex 15, France.

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http://dx.doi.org/10.1002/ajmg.a.32379DOI Listing
July 2008

Prenatal cortical hyperostosis with COL1A1 gene mutation.

Am J Med Genet A 2008 Jul;146A(14):1820-4

Paris Descartes University, INSERM U781, Hôpital Necker, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.32351DOI Listing
July 2008

Effects of bisphosphonates on tooth eruption in children with osteogenesis imperfecta.

Eur J Oral Sci 2008 Jun;116(3):195-8

Paris Descartes University, INSERM, Hopital Necker, Paris, France.

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http://dx.doi.org/10.1111/j.1600-0722.2008.00529.xDOI Listing
June 2008

Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).

Nat Genet 2008 Mar 10;40(3):284-6. Epub 2008 Feb 10.

Département de Génétique, Unité INSERM U781, Université Paris Descartes, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Necker-Enfants Malades, 149, rue de Sèvres, 75015 Paris, France.

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http://dx.doi.org/10.1038/ng.2007.66DOI Listing
March 2008

Achondroplasia.

Best Pract Res Clin Rheumatol 2008 Mar;22(1):3-18

Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.

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http://linkinghub.elsevier.com/retrieve/pii/S152169420700141
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http://dx.doi.org/10.1016/j.berh.2007.12.008DOI Listing
March 2008

Fibrodysplasia ossificans progressiva.

Best Pract Res Clin Rheumatol 2008 Mar;22(1):191-205

Departments of Orthopedic Surgery & Medicine, The University of Pennsylvania School of Medicine, c/o Hospital of The University of Pennsylvania, Philadelphia, PA, USA.

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http://link.springer.com/content/pdf/10.1186%2F1750-1172-6-8
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http://www2.isu.edu/radsci/papers12/105.pdf
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http://www.bjj.boneandjoint.org.uk/content/jbjsbr/64-B/1/76.
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http://linkinghub.elsevier.com/retrieve/pii/S152169420700131
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http://dx.doi.org/10.1016/j.berh.2007.11.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2424023PMC
March 2008

Czech dysplasia metatarsal type: another type II collagen disorder.

Eur J Hum Genet 2007 Dec 29;15(12):1269-75. Epub 2007 Aug 29.

Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.

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http://dx.doi.org/10.1038/sj.ejhg.5201913DOI Listing
December 2007

Animal models of osteogenesis imperfecta and related syndromes.

J Bone Miner Metab 2007 25;25(4):211-8. Epub 2007 Jun 25.

Paris Descartes University, INSERM U781, Tour Lavoisier, Hôpital Necker, 75743, Paris, Cedex 15, France.

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http://dx.doi.org/10.1007/s00774-007-0750-3DOI Listing
August 2007

Ellis-van Creveld syndrome.

Orphanet J Rare Dis 2007 Jun 4;2:27. Epub 2007 Jun 4.

Centre de Référence des Maladies Osseuses Constitutionnelles, Hôpital Necker-Enfants Malades, 149 rue de Sèvres 75743, Paris Cedex 15, France.

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http://dx.doi.org/10.1186/1750-1172-2-27DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1891277PMC
June 2007

[Osteogenesis imperfecta and dentinogenesis imperfecta: diagnostic frontiers and importance in dentofacial orthopedics].

Orthod Fr 2007 Jun 21;78(2):89-99. Epub 2007 Jun 21.

Département d'Orthopédie Dento-Faciale, Faculté de Chirurgie Dentaire, Université Paris-Descartes, 1 rue Maurice Arnoux, 92120 Montrouge, France.

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http://dx.doi.org/10.1051/orthodfr:2007010DOI Listing
June 2007

When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.

Mol Genet Metab 2006 Aug 21;88(4):359-63. Epub 2006 Apr 21.

Department of Human Genetics, Hadassah Hebrew University Medical Center, Jerusalem, Israel.

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http://dx.doi.org/10.1016/j.ymgme.2006.03.003DOI Listing
August 2006

Prenatal diagnostic indicators of paternal uniparental disomy 14.

Prenat Diagn 2006 Aug;26(8):662-6

Division of Medical Genetics, Geneva University Hospitals, Geneva, Switzerland.

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http://dx.doi.org/10.1002/pd.1453DOI Listing
August 2006

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.

Nat Genet 2005 Sep 7;37(9):1003-7. Epub 2005 Aug 7.

Laboratoire d'Explorations Fonctionnelles Endocriniennes, Inserm U515 et UPMC Paris 6, Hôpital Armand Trousseau, AP-HP, 26 avenue Arnold Netter, 75012 Paris, France.

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http://dx.doi.org/10.1038/ng1629DOI Listing
September 2005

Clinical and molecular overlap in overgrowth syndromes.

Am J Med Genet C Semin Med Genet 2005 Aug;137C(1):4-11

INSERM U393, Département de Génétique Médicale, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 [corrected] Paris, France.

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http://dx.doi.org/10.1002/ajmg.c.30060DOI Listing
August 2005

Gracile bones, periostal appositions, hypomineralization of the cranial vault, and mental retardation in brothers: milder variant of osteocraniostenosis or new syndrome?

Am J Med Genet A 2005 Aug;137(2):199-203

Clinical Genetic Unit, Hôpital Robert Debré, Boulevard Sérurier, FR-75019 Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.30360DOI Listing
August 2005

Underdiagnosis of mild congenital disorders of glycosylation type Ia.

Pediatr Neurol 2005 Feb;32(2):121-3

Department of Pediatrics and Department of Genetics, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.

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http://linkinghub.elsevier.com/retrieve/pii/S088789940400390
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http://dx.doi.org/10.1016/j.pediatrneurol.2004.06.021DOI Listing
February 2005