Jouk PS - Search Results

1

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.

Satre V, Monnier N, Berthoin F, Ayuso C, Joannard A, Jouk PS, Lopez-Pajares I, Megabarne A, Philippe HJ, Plauchu H, Torres ML, Lunardi J. Satre V, et al. Among authors: jouk ps. Am J Hum Genet. 1999 Jul;65(1):68-76. doi: 10.1086/302443. Am J Hum Genet. 1999. PMID: 10364518 Free PMC article.

2

[Prenatal diagnosis of mucoviscidosis: indication of enzyme determination and molecular biology techniques].

Jouk PS, Monnier N, Bernard-Guelle F, Lunardi J, Joannard A, Chambaz E, Jalbert P. Jouk PS, et al. Pediatrie. 1992;47(3):201-5. Pediatrie. 1992. PMID: 1351669 French.

3

190-kb duplication in 1p36.11 including PIGV and ARID1A genes in a girl with intellectual disability and hexadactyly.

Coutton C, Bidart M, Rendu J, Devillard F, Vieville G, Amblard F, Lopez G, Jouk PS, Satre V. Coutton C, et al. Among authors: jouk ps. Clin Genet. 2013 Dec;84(6):596-9. doi: 10.1111/cge.12113. Epub 2013 Mar 25. Clin Genet. 2013. PMID: 23521658 No abstract available.

4

Currarino Syndrome and HPE Microform Associated with a 2.7-Mb Deletion in 7q36.3 Excluding SHH Gene.

Coutton C, Poreau B, Devillard F, Durand C, Odent S, Rozel C, Vieville G, Amblard F, Jouk PS, Satre V. Coutton C, et al. Among authors: jouk ps. Mol Syndromol. 2014 Jan;5(1):25-31. doi: 10.1159/000355391. Epub 2013 Oct 2. Mol Syndromol. 2014. PMID: 24550762 Free PMC article.

5

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

El Chehadeh S, Touraine R, Prieur F, Reardon W, Bienvenu T, Chantot-Bastaraud S, Doco-Fenzy M, Landais E, Philippe C, Marle N, Callier P, Mosca-Boidron AL, Mugneret F, Le Meur N, Goldenberg A, Guerrot AM, Chambon P, Satre V, Coutton C, Jouk PS, Devillard F, Dieterich K, Afenjar A, Burglen L, Moutard ML, Addor MC, Lebon S, Martinet D, Alessandri JL, Doray B, Miguet M, Devys D, Saugier-Veber P, Drunat S, Aral B, Kremer V, Rondeau S, Tabet AC, Thevenon J, Thauvin-Robinet C, Perreton N, Des Portes V, Faivre L. El Chehadeh S, et al. Among authors: jouk ps. Clin Genet. 2017 Apr;91(4):576-588. doi: 10.1111/cge.12898. Epub 2017 Feb 16. Clin Genet. 2017. PMID: 27761913

6

[Kleine-Levin syndrome].

Plasse M, Joannard A, Maynard R, Jouk PS, Gilly R, Beaudoing A. Plasse M, et al. Among authors: jouk ps. Pediatrie. 1982 Dec;37(8):601-5. Pediatrie. 1982. PMID: 6963630 French. No abstract available.

7

[Angelman syndrome and severe vagal hypertonia. Three pediatric case reports].

Douchin S, Do-Ngoc D, Rossignol AM, Lucet V, Joannard A, Jouk PS. Douchin S, et al. Among authors: jouk ps. Arch Mal Coeur Vaiss. 2000 May;93(5):559-63. Arch Mal Coeur Vaiss. 2000. PMID: 10858853 French.

8

[Bourneville's tuberous sclerosis of neonatal disclosure. Apropos of 2 cases].

Guyot A, Jouk PS, Andrini P, Rossignol AM, Joannard A, Beaudoing A. Guyot A, et al. Among authors: jouk ps. Pediatrie. 1985 Dec;40(8):633-8. Pediatrie. 1985. PMID: 3914632 French.

9

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.

Callier P, Aral B, Hanna N, Lambert S, Dindy H, Ragon C, Payet M, Collod-Beroud G, Carmignac V, Delrue MA, Goizet C, Philip N, Busa T, Dulac Y, Missotte I, Sznajer Y, Toutain A, Francannet C, Megarbane A, Julia S, Edouard T, Sarda P, Amiel J, Lyonnet S, Cormier-Daire V, Gilbert B, Jacquette A, Heron D, Collignon P, Lacombe D, Morice-Picard F, Jouk PS, Cusin V, Willems M, Sarrazin E, Amarof K, Coubes C, Addor MC, Journel H, Colin E, Khau Van Kien P, Baumann C, Leheup B, Martin-Coignard D, Doco-Fenzy M, Goldenberg A, Plessis G, Thevenon J, Pasquier L, Odent S, Vabres P, Huet F, Marle N, Mosca-Boidron AL, Mugneret F, Gauthier S, Binquet C, Thauvin-Robinet C, Jondeau G, Boileau C, Faivre L. Callier P, et al. Among authors: jouk ps. Clin Genet. 2013 Dec;84(6):507-21. doi: 10.1111/cge.12094. Epub 2013 Mar 18. Clin Genet. 2013. PMID: 23506379 Free article.

10

Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I.

Saal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns JP, Jouk PS, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel-Paulet A, Mousson C, Gouyon JB, Huet F, Thauvin-Robinet C. Saal S, et al. Among authors: jouk ps. Clin Genet. 2010 Mar;77(3):258-65. doi: 10.1111/j.1399-0004.2009.01290.x. Epub 2009 Oct 8. Clin Genet. 2010. PMID: 19817772

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

143 results

Search Page

Filters