Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 214

1.

Duplication of 10q24 locus: broadening the clinical and radiological spectrum.

Holder-Espinasse M, Jamsheer A, Escande F, Andrieux J, Petit F, Sowinska-Seidler A, Socha M, Jakubiuk-Tomaszuk A, Gerard M, Mathieu-Dramard M, Cormier-Daire V, Verloes A, Toutain A, Plessis G, Jonveaux P, Baumann C, David A, Farra C, Colin E, Jacquemont S, Rossi A, Mansour S, Ghali N, Moncla A, Lahiri N, Hurst J, Pollina E, Patch C, Ahn JW, Valat AS, Mezel A, Bourgeot P, Zhang D, Manouvrier-Hanu S.

Eur J Hum Genet. 2019 Apr;27(4):525-534. doi: 10.1038/s41431-018-0326-9. Epub 2019 Jan 8.

PMID:
30622331
2.

16p13.11 microduplication in 45 new patients: refined clinical significance and genotype-phenotype correlations.

Allach El Khattabi L, Heide S, Caberg JH, Andrieux J, Doco Fenzy M, Vincent-Delorme C, Callier P, Chantot-Bastaraud S, Afenjar A, Boute-Benejean O, Cordier MP, Faivre L, Francannet C, Gerard M, Goldenberg A, Masurel-Paulet A, Mosca-Boidron AL, Marle N, Moncla A, Le Meur N, Mathieu-Dramard M, Plessis G, Lesca G, Rossi M, Edery P, Delahaye-Duriez A, De Pontual L, Tabet AC, Lebbar A, Suiro L, Ioos C, Natiq A, Chafai Elalaoui S, Missirian C, Receveur A, François-Fiquet C, Garnier P, Yardin C, Laroche C, Vago P, Sanlaville D, Dupont JM, Benzacken B, Pipiras E.

J Med Genet. 2018 Oct 4. pii: jmedgenet-2018-105389. doi: 10.1136/jmedgenet-2018-105389. [Epub ahead of print]

PMID:
30287593
3.

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.

Pizzo L, Jensen M, Polyak A, Rosenfeld JA, Mannik K, Krishnan A, McCready E, Pichon O, Le Caignec C, Van Dijck A, Pope K, Voorhoeve E, Yoon J, Stankiewicz P, Cheung SW, Pazuchanics D, Huber E, Kumar V, Kember RL, Mari F, Curró A, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Mandarà L, Vincent M, Nizon M, Mercier S, Bénéteau C, Blesson S, Martin-Coignard D, Mosca-Boidron AL, Caberg JH, Bucan M, Zeesman S, Nowaczyk MJM, Lefebvre M, Faivre L, Callier P, Skinner C, Keren B, Perrine C, Prontera P, Marle N, Renieri A, Reymond A, Kooy RF, Isidor B, Schwartz C, Romano C, Sistermans E, Amor DJ, Andrieux J, Girirajan S.

Genet Med. 2019 Apr;21(4):816-825. doi: 10.1038/s41436-018-0266-3. Epub 2018 Sep 7.

4.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features.

Miguet M, Faivre L, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Lefebvre M, Thevenon J, Dubourg C, Julia S, Sarret C, Remerand G, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Vigneron J, Leheup B, Lambert L, Philippe C, Béri-Dexheimer M, Cuisset JM, Andrieux J, Plessis G, Toutain A, Guibaud L, Cormier-Daire V, Rio M, Bonnefont JP, Echenne B, Journel H, Burglen L, Chantot-Bastaraud S, Bienvenu T, Baumann C, Perrin L, Drunat S, Jouk PS, Dieterich K, Devillard F, Lacombe D, Philip N, Sigaudy S, Moncla A, Missirian C, Badens C, Perreton N, Thauvin-Robinet C, AChro-Puce R, Pedespan JM, Rooryck C, Goizet C, Vincent-Delorme C, Duban-Bedu B, Bahi-Buisson N, Afenjar A, Maincent K, Héron D, Alessandri JL, Martin-Coignard D, Lesca G, Rossi M, Raynaud M, Callier P, Mosca-Boidron AL, Marle N, Coutton C, Satre V, Caignec CL, Malan V, Romana S, Keren B, Tabet AC, Kremer V, Scheidecker S, Vigouroux A, Lackmy-Port-Lis M, Sanlaville D, Till M, Carneiro M, Gilbert-Dussardier B, Willems M, Van Esch H, Portes VD, El Chehadeh S.

J Med Genet. 2018 Jun;55(6):359-371. doi: 10.1136/jmedgenet-2017-104956. Epub 2018 Apr 4.

PMID:
29618507
5.

Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.

Moysés-Oliveira M, Giannuzzi G, Fish RJ, Rosenfeld JA, Petit F, Soares MF, Kulikowski LD, Di-Battista A, Zamariolli M, Xia F, Liehr T, Kosyakova N, Carvalheira G, Parker M, Seaby EG, Ennis S, Gilbert RD, Hagelstrom RT, Cremona ML, Li WL, Malhotra A, Chandrasekhar A, Perry DL, Taft RJ, McCarrier J, Basel DG, Andrieux J, Stumpp T, Antunes F, Pereira GJ, Neerman-Arbez M, Meloni VA, Drummond-Borg M, Melaragno MI, Reymond A.

Hum Mutat. 2018 Feb;39(2):281-291. doi: 10.1002/humu.23373. Epub 2017 Dec 14.

PMID:
29193635
6.

19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference.

Trimouille A, Houcinat N, Vuillaume ML, Fergelot P, Boucher C, Toutain J, Caignec CL, Vincent M, Nizon M, Andrieux J, Vanlerberghe C, Delobel B, Duban B, Mansour S, Baple E, McKeown C, Poke G, Robertshaw K, Fifield E, Fabretto A, Pecile V, Gasparini P, Carrozzi M, Lacombe D, Arveiler B, Rooryck C, Moutton S.

Eur J Hum Genet. 2018 Jan;26(1):85-93. doi: 10.1038/s41431-017-0037-7. Epub 2017 Nov 28.

7.

FOXP1-related intellectual disability syndrome: a recognisable entity.

Meerschaut I, Rochefort D, Revençu N, Pètre J, Corsello C, Rouleau GA, Hamdan FF, Michaud JL, Morton J, Radley J, Ragge N, García-Miñaúr S, Lapunzina P, Bralo MP, Mori MÁ, Moortgat S, Benoit V, Mary S, Bockaert N, Oostra A, Vanakker O, Velinov M, de Ravel TJ, Mekahli D, Sebat J, Vaux KK, DiDonato N, Hanson-Kahn AK, Hudgins L, Dallapiccola B, Novelli A, Tarani L, Andrieux J, Parker MJ, Neas K, Ceulemans B, Schoonjans AS, Prchalova D, Havlovicova M, Hancarova M, Budisteanu M, Dheedene A, Menten B, Dion PA, Lederer D, Callewaert B.

J Med Genet. 2017 Sep;54(9):613-623. doi: 10.1136/jmedgenet-2017-104579. Epub 2017 Jul 22. Erratum in: J Med Genet. 2018 Jan;55(1):72-73. J Med Genet. 2018 Feb 13;:.

PMID:
28735298
8.

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.

Zhang J, Gambin T, Yuan B, Szafranski P, Rosenfeld JA, Balwi MA, Alswaid A, Al-Gazali L, Shamsi AMA, Komara M, Ali BR, Roeder E, McAuley L, Roy DS, Manchester DK, Magoulas P, King LE, Hannig V, Bonneau D, Denommé-Pichon AS, Charif M, Besnard T, Bézieau S, Cogné B, Andrieux J, Zhu W, He W, Vetrini F, Ward PA, Cheung SW, Bi W, Eng CM, Lupski JR, Yang Y, Patel A, Lalani SR, Xia F, Stankiewicz P.

Hum Genet. 2017 Aug;136(8):1009-1011. doi: 10.1007/s00439-017-1828-1. No abstract available.

PMID:
28660352
9.

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

Le Gall J, Nizon M, Pichon O, Andrieux J, Audebert-Bellanger S, Baron S, Beneteau C, Bilan F, Boute O, Busa T, Cormier-Daire V, Ferec C, Fradin M, Gilbert-Dussardier B, Jaillard S, Jønch A, Martin-Coignard D, Mercier S, Moutton S, Rooryck C, Schaefer E, Vincent M, Sanlaville D, Le Caignec C, Jacquemont S, David A, Isidor B.

Eur J Hum Genet. 2017 Aug;25(8):930-934. doi: 10.1038/ejhg.2017.93. Epub 2017 Jun 14.

10.

Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions.

Mathieu ML, Demily C, Chantot-Bastaraud S, Afenjar A, Mignot C, Andrieux J, Gerard M, Catala-Mora J, Jouk PS, Labalme A, Edery P, Sanlaville D, Rossi M.

Am J Med Genet A. 2017 Aug;173(8):2268-2274. doi: 10.1002/ajmg.a.38307. Epub 2017 Jun 9.

PMID:
28599093
11.

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.

Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Andrieux J, Stray-Pedersen A, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Tørring PM, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Powis Z, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JHM, van Bon BWM, Lelieveld S, Gilissen C, Nillesen WM, Vissers LELM, Gecz J, Koolen DA, Testa G, de Vries BBA.

Am J Hum Genet. 2017 Jun 1;100(6):907-925. doi: 10.1016/j.ajhg.2017.05.006.

12.

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.

Novara F, Rinaldi B, Sisodiya SM, Coppola A, Giglio S, Stanzial F, Benedicenti F, Donaldson A, Andrieux J, Stapleton R, Weber A, Reho P, van Ravenswaaij-Arts C, Kerstjens-Frederikse WS, Vermeesch JR, Devriendt K, Bacino CA, Delahaye A, Maas SM, Iolascon A, Zuffardi O.

Eur J Hum Genet. 2017 Jun;25(6):694-701. doi: 10.1038/ejhg.2017.49. Epub 2017 Apr 19.

13.

WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion.

Huynh MT, Boudry-Labis E, Duban B, Andrieux J, Tran CT, Tampere H, Ceraso D, Manouvrier S, Tachdjian G, Roche-Lestienne C, Vincent-Delorme C.

Am J Med Genet A. 2017 Jun;173(6):1690-1693. doi: 10.1002/ajmg.a.38206. Epub 2017 Apr 11.

PMID:
28398607
14.

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

Depienne C, Nava C, Keren B, Heide S, Rastetter A, Passemard S, Chantot-Bastaraud S, Moutard ML, Agrawal PB, VanNoy G, Stoler JM, Amor DJ, Billette de Villemeur T, Doummar D, Alby C, Cormier-Daire V, Garel C, Marzin P, Scheidecker S, de Saint-Martin A, Hirsch E, Korff C, Bottani A, Faivre L, Verloes A, Orzechowski C, Burglen L, Leheup B, Roume J, Andrieux J, Sheth F, Datar C, Parker MJ, Pasquier L, Odent S, Naudion S, Delrue MA, Le Caignec C, Vincent M, Isidor B, Renaldo F, Stewart F, Toutain A, Koehler U, Häckl B, von Stülpnagel C, Kluger G, Møller RS, Pal D, Jonson T, Soller M, Verbeek NE, van Haelst MM, de Kovel C, Koeleman B, Monroe G, van Haaften G; DDD Study, Attié-Bitach T, Boutaud L, Héron D, Mignot C.

Hum Genet. 2017 Apr;136(4):463-479. doi: 10.1007/s00439-017-1772-0. Epub 2017 Mar 10.

15.

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.

Zhang J, Gambin T, Yuan B, Szafranski P, Rosenfeld JA, Balwi MA, Alswaid A, Al-Gazali L, Shamsi AMA, Komara M, Ali BR, Roeder E, McAuley L, Roy DS, Manchester DK, Magoulas P, King LE, Hannig V, Bonneau D, Denommé-Pichon AS, Charif M, Besnard T, Bézieau S, Cogné B, Andrieux J, Zhu W, He W, Vetrini F, Ward PA, Cheung SW, Bi W, Eng CM, Lupski JR, Yang Y, Patel A, Lalani SR, Xia F, Stankiewicz P.

Hum Genet. 2017 Apr;136(4):377-386. doi: 10.1007/s00439-017-1763-1. Epub 2017 Mar 1. Erratum in: Hum Genet. 2017 Jun 28;:.

16.

De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations.

Dennert N, Engels H, Cremer K, Becker J, Wohlleber E, Albrecht B, Ehret JK, Lüdecke HJ, Suri M, Carignani G, Renieri A, Kukuk GM, Wieland T, Andrieux J, Strom TM, Wieczorek D, Dieux-Coëslier A, Zink AM.

Am J Med Genet A. 2017 Feb;173(2):435-443. doi: 10.1002/ajmg.a.38034. Epub 2016 Nov 14. Review.

PMID:
27862890
17.

Clinical utility gene card for: 16p12.2 microdeletion.

Pizzo L, Andrieux J, Amor DJ, Girirajan S.

Eur J Hum Genet. 2017 Feb;25(2). doi: 10.1038/ejhg.2016.158. Epub 2016 Nov 16. No abstract available.

18.

TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons.

Caubit X, Gubellini P, Andrieux J, Roubertoux PL, Metwaly M, Jacq B, Fatmi A, Had-Aissouni L, Kwan KY, Salin P, Carlier M, Liedén A, Rudd E, Shinawi M, Vincent-Delorme C, Cuisset JM, Lemaitre MP, Abderrehamane F, Duban B, Lemaitre JF, Woolf AS, Bockenhauer D, Severac D, Dubois E, Zhu Y, Sestan N, Garratt AN, Lydia Kerkerian-Le Goff, Fasano L.

Nat Genet. 2016 Nov;48(11):1359-1369. doi: 10.1038/ng.3681. Epub 2016 Sep 26.

19.

7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.

Shimojima K, Narai S, Togawa M, Doumoto T, Sangu N, Vanakker OM, de Paepe A, Edwards M, Whitehall J, Brescianini S, Petit F, Andrieux J, Yamamoto T.

Eur J Med Genet. 2016 Oct;59(10):502-6. doi: 10.1016/j.ejmg.2016.09.008. Epub 2016 Sep 12.

PMID:
27633570
20.

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.

Leppa VM, Kravitz SN, Martin CL, Andrieux J, Le Caignec C, Martin-Coignard D, DyBuncio C, Sanders SJ, Lowe JK, Cantor RM, Geschwind DH.

Am J Hum Genet. 2016 Sep 1;99(3):540-554. doi: 10.1016/j.ajhg.2016.06.036. Epub 2016 Aug 25.

21.

Partial deletion of DEPDC5 in a child with focal epilepsy.

Bonaglia MC, Giorda R, Epifanio R, Bertuzzo S, Marelli S, Gerard M, Andrieux J, Zanotta N, Zucca C.

Epilepsia Open. 2016 Aug 25;1(3-4):140-144. doi: 10.1002/epi4.12012. eCollection 2016 Dec.

22.

ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome.

Zak J, Vives V, Szumska D, Vernet A, Schneider JE, Miller P, Slee EA, Joss S, Lacassie Y, Chen E, Escobar LF, Tucker M, Aylsworth AS, Dubbs HA, Collins AT, Andrieux J, Dieux-Coeslier A, Haberlandt E, Kotzot D, Scott DA, Parker MJ, Zakaria Z, Choy YS, Wieczorek D, Innes AM, Jun KR, Zinner S, Prin F, Lygate CA, Pretorius P, Rosenfeld JA, Mohun TJ, Lu X.

Cell Death Differ. 2016 Dec;23(12):1973-1984. doi: 10.1038/cdd.2016.76. Epub 2016 Jul 22.

23.

Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.

Loviglio MN, Leleu M, Männik K, Passeggeri M, Giannuzzi G, van der Werf I, Waszak SM, Zazhytska M, Roberts-Caldeira I, Gheldof N, Migliavacca E, Alfaiz AA, Hippolyte L, Maillard AM; 2p15 Consortium; 16p11.2 Consortium, Van Dijck A, Kooy RF, Sanlaville D, Rosenfeld JA, Shaffer LG, Andrieux J, Marshall C, Scherer SW, Shen Y, Gusella JF, Thorsteinsdottir U, Thorleifsson G, Dermitzakis ET, Deplancke B, Beckmann JS, Rougemont J, Jacquemont S, Reymond A.

Mol Psychiatry. 2017 Jun;22(6):836-849. doi: 10.1038/mp.2016.84. Epub 2016 May 31.

24.

Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development.

Thuresson AC, Van Buggenhout G, Sheth F, Kamate M, Andrieux J, Clayton Smith J, Soussi Zander C.

Clin Genet. 2017 Jan;91(1):106-110. doi: 10.1111/cge.12797. Epub 2016 Jun 2.

PMID:
27153334
25.

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.

D'Angelo D, Lebon S, Chen Q, Martin-Brevet S, Snyder LG, Hippolyte L, Hanson E, Maillard AM, Faucett WA, Macé A, Pain A, Bernier R, Chawner SJ, David A, Andrieux J, Aylward E, Baujat G, Caldeira I, Conus P, Ferrari C, Forzano F, Gérard M, Goin-Kochel RP, Grant E, Hunter JV, Isidor B, Jacquette A, Jønch AE, Keren B, Lacombe D, Le Caignec C, Martin CL, Männik K, Metspalu A, Mignot C, Mukherjee P, Owen MJ, Passeggeri M, Rooryck-Thambo C, Rosenfeld JA, Spence SJ, Steinman KJ, Tjernagel J, Van Haelst M, Shen Y, Draganski B, Sherr EH, Ledbetter DH, van den Bree MB, Beckmann JS, Spiro JE, Reymond A, Jacquemont S, Chung WK; Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study; 16p11.2 European Consortium; Simons Variation in Individuals Project (VIP) Consortium.

JAMA Psychiatry. 2016 Jan;73(1):20-30. doi: 10.1001/jamapsychiatry.2015.2123.

26.

Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies.

Bosson C, Devillard F, Satre V, Dieterich K, Ray PF, Morand B, Dubois-Teklali F, Vieville G, Andrieux J, Brouillet S, Amblard F, Jouk PS, Coutton C.

Am J Med Genet A. 2016 Feb;170A(2):498-503. doi: 10.1002/ajmg.a.37450. Epub 2015 Nov 6.

PMID:
26545049
27.

Growth hormone deficiency and pituitary malformation in a recurrent Cat-Eye syndrome: a family report.

Jedraszak G, Braun K, Receveur A, Decamp M, Andrieux J, Rabbind Singh A, Copin H, Bremond-Gignac D, Mathieu M, Rochette J, Morin G.

Ann Endocrinol (Paris). 2015 Oct;76(5):629-34. doi: 10.1016/j.ando.2015.02.002. Epub 2015 Oct 27.

PMID:
26518262
28.

Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

Ehret JK, Engels H, Cremer K, Becker J, Zimmermann JP, Wohlleber E, Grasshoff U, Rossier E, Bonin M, Mangold E, Bevot A, Schön S, Heilmann-Heimbach S, Dennert N, Mathieu-Dramard M, Lacaze E, Plessis G, de Broca A, Jedraszak G, Röthlisberger B, Miny P, Filges I, Dufke A, Andrieux J, Lee JA, Zink AM.

Mol Cytogenet. 2015 Sep 29;8:72. doi: 10.1186/s13039-015-0178-8. eCollection 2015.

29.

Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients.

El Chehadeh S, Faivre L, Mosca-Boidron AL, Malan V, Amiel J, Nizon M, Touraine R, Prieur F, Pasquier L, Callier P, Lefebvre M, Marle N, Dubourg C, Julia S, Sarret C, Francannet C, Laffargue F, Boespflug-Tanguy O, David A, Isidor B, Le Caignec C, Vigneron J, Leheup B, Lambert L, Philippe C, Cuisset JM, Andrieux J, Plessis G, Toutain A, Goldenberg A, Cormier-Daire V, Rio M, Bonnefont JP, Thevenon J, Echenne B, Journel H, Afenjar A, Burglen L, Bienvenu T, Addor MC, Lebon S, Martinet D, Baumann C, Perrin L, Drunat S, Jouk PS, Devillard F, Coutton C, Lacombe D, Delrue MA, Philip N, Moncla A, Badens C, Perreton N, Masurel A, Thauvin-Robinet C, Des Portes V, Guibaud L.

Am J Med Genet A. 2016 Jan;170A(1):116-29. doi: 10.1002/ajmg.a.37384. Epub 2015 Sep 30.

PMID:
26420639
30.

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping.

Nambot S, Masurel A, El Chehadeh S, Mosca-Boidron AL, Thauvin-Robinet C, Lefebvre M, Marle N, Thevenon J, Perez-Martin S, Dulieu V, Huet F, Plessis G, Andrieux J, Jouk PS, Billy-Lopez G, Coutton C, Morice-Picard F, Delrue MA, Heron D, Rooryck C, Goldenberg A, Saugier-Veber P, Joly-Hélas G, Calenda P, Kuentz P, Manouvrier-Hanu S, Dupuis-Girod S, Callier P, Faivre L.

Eur J Hum Genet. 2016 Jun;24(6):830-7. doi: 10.1038/ejhg.2015.202. Epub 2015 Sep 23.

31.

In situ hydrogen loading on zirconium powder.

Maimaitiyili T, Blomqvist J, Steuwer A, Bjerkén C, Zanellato O, Blackmur MS, Andrieux J, Ribeiro F.

J Synchrotron Radiat. 2015 Jul;22(4):995-1000. doi: 10.1107/S1600577515009054. Epub 2015 Jun 26.

32.

Microdeletions of ELP4 Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation.

Addis L, Ahn JW, Dobson R, Dixit A, Ogilvie CM, Pinto D, Vaags AK, Coon H, Chaste P, Wilson S, Parr JR, Andrieux J, Lenne B, Tumer Z, Leuzzi V, Aubell K, Koillinen H, Curran S, Marshall CR, Scherer SW, Strug LJ, Collier DA, Pal DK.

Hum Mutat. 2015 Sep;36(9):842-50. doi: 10.1002/humu.22816. Epub 2015 Jun 30.

PMID:
26010655
33.

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.

Migliavacca E, Golzio C, Männik K, Blumenthal I, Oh EC, Harewood L, Kosmicki JA, Loviglio MN, Giannuzzi G, Hippolyte L, Maillard AM, Alfaiz AA; 16p11.2 European Consortium, van Haelst MM, Andrieux J, Gusella JF, Daly MJ, Beckmann JS, Jacquemont S, Talkowski ME, Katsanis N, Reymond A.

Am J Hum Genet. 2015 May 7;96(5):784-96. doi: 10.1016/j.ajhg.2015.04.002. Epub 2015 Apr 30.

34.

Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalities.

Papuc SM, Hackmann K, Andrieux J, Vincent-Delorme C, Budişteanu M, Arghir A, Schrock E, Ţuţulan-Cuniţă AC, Di Donato N.

Eur J Med Genet. 2015 May;58(5):319-23. doi: 10.1016/j.ejmg.2015.03.005. Epub 2015 Apr 6.

PMID:
25858704
35.

Clinical and molecular delineation of Tetrasomy 9p syndrome: report of 12 new cases and literature review.

El Khattabi L, Jaillard S, Andrieux J, Pasquier L, Perrin L, Capri Y, Benmansour A, Toutain A, Marcorelles P, Vincent-Delorme C, Journel H, Henry C, De Barace C, Devisme L, Dubourg C, Demurger F, Lucas J, Belaud-Rotureau MA, Amiel J, Malan V, De Blois MC, De Pontual L, Lebbar A, Le Dû N, Germain DP, Pinard JM, Pipiras E, Tabet AC, Aboura A, Verloes A.

Am J Med Genet A. 2015 Jun;167(6):1252-61. doi: 10.1002/ajmg.a.36932. Epub 2015 Apr 2. Review.

36.

The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis.

Petit F, Jourdain AS, Holder-Espinasse M, Keren B, Andrieux J, Duterque-Coquillaud M, Porchet N, Manouvrier-Hanu S, Escande F.

Eur J Hum Genet. 2016 Jan;24(1):37-43. doi: 10.1038/ejhg.2015.53. Epub 2015 Mar 18.

37.

Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletion.

Chatron N, Haddad V, Andrieux J, Désir J, Boute O, Dieux A, Baumann C, Drunat S, Gérard M, Bonnet C, Leheup B, Till M, Rossi M, Flori E, Alembik Y, Stewart H, McParland J, Bernardini L, Castelluccio P, Roos L, Tümer Z, Fagan K, Hackett A, Bain N, van Haeringen A, Ruivenkamp C, Benzacken B, Sanlaville D, Edery P, Aboura A, Schluth-Bolard C.

Am J Med Genet A. 2015 May;167A(5):1008-17. doi: 10.1002/ajmg.a.36856. Epub 2015 Feb 25.

PMID:
25728055
38.

Dermatologic features of Smith-Magenis syndrome.

Guérin-Moreau M, Colin E, Nguyen S, Andrieux J, de Leersnyder H, Bonneau D, Martin L.

Pediatr Dermatol. 2015 May-Jun;32(3):337-41. doi: 10.1111/pde.12517. Epub 2015 Feb 12.

PMID:
25684097
39.

Severe psychomotor delay in a severe presentation of cat-eye syndrome.

Jedraszak G, Receveur A, Andrieux J, Mathieu-Dramard M, Copin H, Morin G.

Case Rep Genet. 2015;2015:943905. doi: 10.1155/2015/943905. Epub 2015 Jan 14.

40.

Pure interstitial dup(6)(q22.31q22.31) - a case report.

Sheth F, Trivedi S, Andrieux J, Blouin JL, Sheth J.

Ital J Pediatr. 2015 Jan 31;41:5. doi: 10.1186/s13052-015-0113-y.

41.

15q11.2 microdeletion (BP1-BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: a series of 52 patients.

Vanlerberghe C, Petit F, Malan V, Vincent-Delorme C, Bouquillon S, Boute O, Holder-Espinasse M, Delobel B, Duban B, Vallee L, Cuisset JM, Lemaitre MP, Vantyghem MC, Pigeyre M, Lanco-Dosen S, Plessis G, Gerard M, Decamp M, Mathieu M, Morin G, Jedraszak G, Bilan F, Gilbert-Dussardier B, Fauvert D, Roume J, Cormier-Daire V, Caumes R, Puechberty J, Genevieve D, Sarda P, Pinson L, Blanchet P, Lemeur N, Sheth F, Manouvrier-Hanu S, Andrieux J.

Eur J Med Genet. 2015 Mar;58(3):140-7. doi: 10.1016/j.ejmg.2015.01.002. Epub 2015 Jan 14.

PMID:
25596525
42.

Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: six new patients.

Jedraszak G, Demeer B, Mathieu-Dramard M, Andrieux J, Receveur A, Weber A, Maye U, Foulds N, Temple IK, Crolla J, Alex-Cordier MP, Sanlaville D, Ewans L, Wilson M, Armstrong R, Clarkson A, Copin H, Morin G.

Am J Med Genet A. 2015 Mar;167A(3):504-11. doi: 10.1002/ajmg.a.36882. Epub 2015 Jan 8. Review.

PMID:
25572454
43.

Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite.

Dharmadhikari AV, Gambin T, Szafranski P, Cao W, Probst FJ, Jin W, Fang P, Gogolewski K, Gambin A, George-Abraham JK, Golla S, Boidein F, Duban-Bedu B, Delobel B, Andrieux J, Becker K, Holinski-Feder E, Cheung SW, Stankiewicz P.

BMC Med Genet. 2014 Dec 4;15:128. doi: 10.1186/s12881-014-0128-z.

44.

21q21 deletion involving NCAM2: report of 3 cases with neurodevelopmental disorders.

Petit F, Plessis G, Decamp M, Cuisset JM, Blyth M, Pendlebury M, Andrieux J.

Eur J Med Genet. 2015 Jan;58(1):44-6. doi: 10.1016/j.ejmg.2014.11.004. Epub 2014 Nov 20.

PMID:
25464110
45.

Involvement of interstitial telomeric sequences in two new cases of mosaicism for autosomal structural rearrangements.

Lévy J, Receveur A, Jedraszak G, Chantot-Bastaraud S, Renaldo F, Gondry J, Andrieux J, Copin H, Siffroi JP, Portnoï MF.

Am J Med Genet A. 2015 Feb;167A(2):428-33. doi: 10.1002/ajmg.a.36857. Epub 2014 Nov 26.

PMID:
25428228
46.

Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.

Nizon M, Andrieux J, Rooryck C, de Blois MC, Bourel-Ponchel E, Bourgois B, Boute O, David A, Delobel B, Duban-Bedu B, Giuliano F, Goldenberg A, Grotto S, Héron D, Karmous-Benailly H, Keren B, Lacombe D, Lapierre JM, Le Caignec C, Le Galloudec E, Le Merrer M, Le Moing AG, Mathieu-Dramard M, Nusbaum S, Pichon O, Pinson L, Raoul O, Rio M, Romana S, Roubertie A, Colleaux L, Turleau C, Vekemans M, Nabbout R, Malan V.

Am J Med Genet A. 2015 Jan;167A(1):111-22. doi: 10.1002/ajmg.a.36807. Epub 2014 Nov 25. Review.

PMID:
25425167
47.

The first familial case of inherited 2q37.3 interstitial deletion with isolated skeletal abnormalities including brachydactyly type E and short stature.

Jean-Marçais N, Decamp M, Gérard M, Ribault V, Andrieux J, Kottler ML, Plessis G.

Am J Med Genet A. 2015 Jan;167A(1):185-9. doi: 10.1002/ajmg.a.36428. Epub 2014 Nov 17.

PMID:
25402011
48.

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

El Khattabi L, Guimiot F, Pipiras E, Andrieux J, Baumann C, Bouquillon S, Delezoide AL, Delobel B, Demurger F, Dessuant H, Drunat S, Dubourg C, Dupont C, Faivre L, Holder-Espinasse M, Jaillard S, Journel H, Lyonnet S, Malan V, Masurel A, Marle N, Missirian C, Moerman A, Moncla A, Odent S, Palumbo O, Palumbo P, Ravel A, Romana S, Tabet AC, Valduga M, Vermelle M, Carella M, Dupont JM, Verloes A, Benzacken B, Delahaye A.

Eur J Hum Genet. 2015 Aug;23(8):1010-8. doi: 10.1038/ejhg.2014.230. Epub 2014 Nov 5.

49.

Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality.

Sheth FJ, Datar C, Andrieux J, Pandit A, Nayak D, Rahman M, Sheth JJ.

Clin Med Insights Pediatr. 2014 Sep 17;8:45-9. doi: 10.4137/CMPed.S18121. eCollection 2014.

50.

The clinical significance of small copy number variants in neurodevelopmental disorders.

Asadollahi R, Oneda B, Joset P, Azzarello-Burri S, Bartholdi D, Steindl K, Vincent M, Cobilanschi J, Sticht H, Baldinger R, Reissmann R, Sudholt I, Thiel CT, Ekici AB, Reis A, Bijlsma EK, Andrieux J, Dieux A, FitzPatrick D, Ritter S, Baumer A, Latal B, Plecko B, Jenni OG, Rauch A.

J Med Genet. 2014 Oct;51(10):677-88. doi: 10.1136/jmedgenet-2014-102588. Epub 2014 Aug 8.

Supplemental Content

Loading ...
Support Center