Le Merrer M - Search Results

1

A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia.

Schipani E, Langman C, Hunzelman J, Le Merrer M, Loke KY, Dillon MJ, Silve C, Jüppner H. Schipani E, et al. Among authors: le merrer m. J Clin Endocrinol Metab. 1999 Sep;84(9):3052-7. doi: 10.1210/jcem.84.9.6000. J Clin Endocrinol Metab. 1999. PMID: 10487664

2

Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia.

Jobert AS, Zhang P, Couvineau A, Bonaventure J, Roume J, Le Merrer M, Silve C. Jobert AS, et al. Among authors: le merrer m. J Clin Invest. 1998 Jul 1;102(1):34-40. doi: 10.1172/JCI2918. J Clin Invest. 1998. PMID: 9649554 Free PMC article.

3

IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies.

Vilain E, Le Merrer M, Lecointre C, Desangles F, Kay MA, Maroteaux P, McCabe ER. Vilain E, et al. Among authors: le merrer m. J Clin Endocrinol Metab. 1999 Dec;84(12):4335-40. doi: 10.1210/jcem.84.12.6186. J Clin Endocrinol Metab. 1999. PMID: 10599684 Review.

4

Defective chondrocyte proliferation and differentiation in osteochondromas of MHE patients.

Benoist-Lasselin C, de Margerie E, Gibbs L, Cormier S, Silve C, Nicolas G, LeMerrer M, Mallet JF, Munnich A, Bonaventure J, Zylberberg L, Legeai-Mallet L. Benoist-Lasselin C, et al. Bone. 2006 Jul;39(1):17-26. doi: 10.1016/j.bone.2005.12.003. Epub 2006 Feb 13. Bone. 2006. PMID: 16476576

5

COL9A3: A third locus for multiple epiphyseal dysplasia.

Paassilta P, Lohiniva J, Annunen S, Bonaventure J, Le Merrer M, Pai L, Ala-Kokko L. Paassilta P, et al. Among authors: le merrer m. Am J Hum Genet. 1999 Apr;64(4):1036-44. doi: 10.1086/302328. Am J Hum Genet. 1999. PMID: 10090888 Free PMC article.

6

[Golabi Rosen syndrome: a rare syndrome with imprecise nosologic limits, failure of prenatal diagnosis].

Le Merrer M, Roume J, Narcy F, Larroche JC, Briard ML. Le Merrer M, et al. J Genet Hum. 1989 Jun;37(2):163-5. J Genet Hum. 1989. PMID: 2746174 French. No abstract available.

7

Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation.

Gonzales M, Heuertz S, Martinovic J, Delahaye S, Bazin A, Loget P, Pasquier L, Le Merrer M, Bonaventure J. Gonzales M, et al. Among authors: le merrer m. Clin Genet. 2005 Aug;68(2):179-81. doi: 10.1111/j.1399-0004.2005.00477.x. Clin Genet. 2005. PMID: 15996217 No abstract available.

8

Severe brain and limb defects with possible autosomal recessive inheritance: a series of six cases and review of the literature.

Labrune P, Trioche P, Fallet-Bianco C, Roume J, Narcy F, Le Merrer M. Labrune P, et al. Among authors: le merrer m. Am J Med Genet. 1997 Dec 12;73(2):144-9. Am J Med Genet. 1997. PMID: 9409864 Review.

9

Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.

Rousseau F, Saugier P, Le Merrer M, Munnich A, Delezoide AL, Maroteaux P, Bonaventure J, Narcy F, Sanak M. Rousseau F, et al. Among authors: le merrer m. Nat Genet. 1995 May;10(1):11-2. doi: 10.1038/ng0595-11. Nat Genet. 1995. PMID: 7647778 No abstract available.

10

Growth charts in Kabuki syndrome 1.

Ruault V, Corsini C, Duflos C, Akouete S, Georgescu V, Abaji M, Alembick Y, Alix E, Amiel J, Amouroux C, Barat-Houari M, Baumann C, Bonnard A, Boursier G, Boute O, Burglen L, Busa T, Cordier MP, Cormier-Daire V, Delrue MA, Doray B, Faivre L, Fradin M, Gilbert-Dussardier B, Giuliano F, Goldenberg A, Gorokhova S, Héron D, Isidor B, Jacquemont ML, Jacquette A, Jeandel C, Lacombe D, Le Merrer M, Sang KHLQ, Lyonnet S, Manouvrier S, Michot C, Moncla A, Moutton S, Odent S, Pelet A, Philip N, Pinson L, Reversat J, Roume J, Sanchez E, Sanlaville D, Sarda P, Schaefer E, Till M, Touitou I, Toutain A, Willems M, Gatinois V, Geneviève D. Ruault V, et al. Among authors: le merrer m. Am J Med Genet A. 2020 Mar;182(3):446-453. doi: 10.1002/ajmg.a.61462. Epub 2019 Dec 26. Am J Med Genet A. 2020. PMID: 31876365 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

343 results

Search Page

Filters