Lacombe D - Search Results

1

First female prenatal case of osteopathia striata with cranial sclerosis in a fetus carrying a de-novo 1.9 Mbp interstitial deletion at Xq11.1q11.2.

Vuillaume ML, Valard AG, Houcinat N, Bouron J, Boucher C, Deves S, Toutain J, Schaub B, Adenet C, Lacombe D, Gueneret M, Rooryck C. Vuillaume ML, et al. Among authors: lacombe d. Clin Dysmorphol. 2017 Oct;26(4):231-234. doi: 10.1097/MCD.0000000000000192. Clin Dysmorphol. 2017. PMID: 28799946 No abstract available.

2

Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy.

Goizet C, Coupry I, Rooryck C, Taine L, Dormoy V, Lacombe D, Arveiler B. Goizet C, et al. Among authors: lacombe d. Eur J Hum Genet. 2004 Mar;12(3):245-50. doi: 10.1038/sj.ejhg.5201128. Eur J Hum Genet. 2004. PMID: 14722582

3

SMAD4 germinal mosaicism in a family with juvenile polyposis and hypertrophic osteoarthropathy.

Lamireau T, Olschwang S, Rooryck C, Le Bail B, Chateil JF, Lacombe D. Lamireau T, et al. Among authors: lacombe d. J Pediatr Gastroenterol Nutr. 2005 Jul;41(1):117-20. doi: 10.1097/01.mpg.0000151762.51287.7d. J Pediatr Gastroenterol Nutr. 2005. PMID: 15990641 No abstract available.

4

[Bardet-Biedl syndrome].

Rooryck C, Lacombe D. Rooryck C, et al. Among authors: lacombe d. Ann Endocrinol (Paris). 2008 Dec;69(6):463-71. doi: 10.1016/j.ando.2008.10.001. Epub 2008 Nov 18. Ann Endocrinol (Paris). 2008. PMID: 19019343 Review. French.

5

Hallerman-Streiff-like syndrome presenting with laterality and cardiac defects.

Morice-Picard F, Marlin S, Rooryck C, Fayon M, Thambo JB, Demarquez JL, Fauroux B, Denoyelle F, Lacombe D. Morice-Picard F, et al. Among authors: lacombe d. Clin Dysmorphol. 2009 Apr;18(2):116-119. doi: 10.1097/MCD.0b013e32831da7ab. Clin Dysmorphol. 2009. PMID: 19057381

6

2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene.

Rooryck C, Stef M, Burgelin I, Simon D, Souakri N, Thambo JB, Chateil JF, Lacombe D, Arveiler B. Rooryck C, et al. Among authors: lacombe d. Eur J Med Genet. 2009 Nov-Dec;52(6):446-9. doi: 10.1016/j.ejmg.2009.08.005. Epub 2009 Sep 3. Eur J Med Genet. 2009. PMID: 19733267

7

Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrum.

Rooryck C, VuPhi Y, Souakri N, Burgelin I, Saura R, Lacombe D, Arveiler B, Taine L. Rooryck C, et al. Among authors: lacombe d. Eur J Med Genet. 2010 Mar-Apr;53(2):104-7. doi: 10.1016/j.ejmg.2010.01.003. Epub 2010 Feb 2. Eur J Med Genet. 2010. PMID: 20132917

8

Brachydactyly type A1 with short humerus and associated skeletal features.

Lacombe D, Delrue MA, Rooryck C, Morice-Picard F, Arveiler B, Maugey-Laulom B, Mundlos S, Toutain A, Chateil JF. Lacombe D, et al. Am J Med Genet A. 2010 Dec;152A(12):3016-21. doi: 10.1002/ajmg.a.33761. Am J Med Genet A. 2010. PMID: 21077205

9

An unusual chromosome 22q11 deletion associated with an apparent complementary ring chromosome in a phenotypically normal woman.

Toutain J, Taine L, Morice-Picard F, Hallal H, Dai ZQ, Arveiler B, Lacombe D, Horovitz J, Saura R. Toutain J, et al. Among authors: lacombe d. Eur J Med Genet. 2011 May-Jun;54(3):292-4. doi: 10.1016/j.ejmg.2010.12.005. Epub 2011 Jan 5. Eur J Med Genet. 2011. PMID: 21215339

10

1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype.

Brun A, Cailley D, Toutain J, Bouron J, Arveiler B, Lacombe D, Goizet C, Rooryck C. Brun A, et al. Among authors: lacombe d. Eur J Med Genet. 2012 Feb;55(2):135-9. doi: 10.1016/j.ejmg.2011.11.006. Epub 2011 Dec 3. Eur J Med Genet. 2012. PMID: 22198201

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