Joubert M - Search Results

1

Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations.

Isidor B, Lefebvre T, Le Vaillant C, Caillaud G, Faivre L, Jossic F, Joubert M, Winer N, Le Caignec C, Borck G, Pelet A, Amiel J, Toutain A, Ronce N, Raynaud M, Verloes A, David A. Isidor B, et al. Among authors: joubert m. Am J Med Genet A. 2014 Jul;164A(7):1821-5. doi: 10.1002/ajmg.a.36539. Epub 2014 Apr 8. Am J Med Genet A. 2014. PMID: 24715367

2

46,XY gonadal dysgenesis: evidence for autosomal dominant transmission in a large kindred.

Le Caignec C, Baron S, McElreavey K, Joubert M, Rival JM, Mechinaud F, David A. Le Caignec C, et al. Among authors: joubert m. Am J Med Genet A. 2003 Jan 1;116A(1):37-43. doi: 10.1002/ajmg.a.10820. Am J Med Genet A. 2003. PMID: 12476449

3

Prenatal diagnosis of a small supernumerary, XIST-negative, mosaic ring X chromosome identified by fluorescence in situ hybridization in an abnormal male fetus.

Le Caignec C, Boceno M, Joubert M, Winer N, Aubron F, Fallet-Bianco C, Rival JM. Le Caignec C, et al. Among authors: joubert m. Prenat Diagn. 2003 Feb;23(2):143-5. doi: 10.1002/pd.553. Prenat Diagn. 2003. PMID: 12575022 Review.

4

Prenatal diagnosis of sacrococcygeal teratoma with constitutional partial monosomy 7q/trisomy 2p.

Le Caignec C, Winer N, Boceno M, Delnatte C, Podevin G, Liet JM, Quere MP, Joubert M, Rival JM. Le Caignec C, et al. Among authors: joubert m. Prenat Diagn. 2003 Dec 15;23(12):981-4. doi: 10.1002/pd.742. Prenat Diagn. 2003. PMID: 14663834 Review.

5

Prenatal diagnosis of a cleidocranial dysplasia-like phenotype associated with a de novo balanced t(2q;6q)(q36;q16) translocation.

Winer N, Le Caignec C, Quere MP, David A, Boceno M, Aubron F, Joubert M, Boog G, Philippe HJ, Rival JM. Winer N, et al. Among authors: joubert m. Ultrasound Obstet Gynecol. 2003 Dec;22(6):648-51. doi: 10.1002/uog.916. Ultrasound Obstet Gynecol. 2003. PMID: 14689542 Free article.

6

Sonographic findings in Beckwith-Wiedemann syndrome related to H19 hypermethylation.

Le Caignec C, Gicquel C, Gubler MC, Guyot C, You MC, Laurent A, Joubert M, Winer N, David A, Rival JM. Le Caignec C, et al. Among authors: joubert m. Prenat Diagn. 2004 Mar;24(3):165-8. doi: 10.1002/pd.818. Prenat Diagn. 2004. PMID: 15057946

7

Detection of genomic imbalances by array based comparative genomic hybridisation in fetuses with multiple malformations.

Le Caignec C, Boceno M, Saugier-Veber P, Jacquemont S, Joubert M, David A, Frebourg T, Rival JM. Le Caignec C, et al. Among authors: joubert m. J Med Genet. 2005 Feb;42(2):121-8. doi: 10.1136/jmg.2004.025478. J Med Genet. 2005. PMID: 15689449 Free PMC article.

8

Prenatal sonographic findings in Peters-plus syndrome.

Boog G, Le Vaillant C, Joubert M. Boog G, et al. Among authors: joubert m. Ultrasound Obstet Gynecol. 2005 Jun;25(6):602-6. doi: 10.1002/uog.1910. Ultrasound Obstet Gynecol. 2005. PMID: 15912477 Free article.

9

[Mirror pre-eclampsia: Ballantyne's syndrome. Two cases].

Proust S, Philippe HJ, Paumier A, Joubert M, Boog G, Winer N. Proust S, et al. Among authors: joubert m. J Gynecol Obstet Biol Reprod (Paris). 2006 May;35(3):270-4. doi: 10.1016/s0368-2315(06)78312-0. J Gynecol Obstet Biol Reprod (Paris). 2006. PMID: 16645561 Free article. Review. French.

10

Complete sex reversal in a WAGR syndrome patient.

Le Caignec C, Delnatte C, Vermeesch JR, Boceno M, Joubert M, Lavenant F, David A, Rival JM. Le Caignec C, et al. Among authors: joubert m. Am J Med Genet A. 2007 Nov 15;143A(22):2692-5. doi: 10.1002/ajmg.a.31997. Am J Med Genet A. 2007. PMID: 17935232

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