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Items: 1 to 50 of 51

1.

A clinical scoring system for congenital contractural arachnodactyly.

Meerschaut I, De Coninck S, Steyaert W, Barnicoat A, Bayat A, Benedicenti F, Berland S, Blair EM, Breckpot J, de Burca A, Destrée A, García-Miñaúr S, Green AJ, Hanna BC, Keymolen K, Koopmans M, Lederer D, Lees M, Longman C, Lynch SA, Male AM, McKenzie F, Migeotte I, Mihci E, Nur B, Petit F, Piard J, Plasschaert FS, Rauch A, Ribaï P, Pacheco IS, Stanzial F, Stolte-Dijkstra I, Valenzuela I, Varghese V, Vasudevan PC, Wakeling E, Wallgren-Pettersson C, Coucke P, De Paepe A, De Wolf D, Symoens S, Callewaert B.

Genet Med. 2020 Jan;22(1):124-131. doi: 10.1038/s41436-019-0609-8. Epub 2019 Jul 18.

PMID:
31316167
2.

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.

Konrad EDH, Nardini N, Caliebe A, Nagel I, Young D, Horvath G, Santoro SL, Shuss C, Ziegler A, Bonneau D, Kempers M, Pfundt R, Legius E, Bouman A, Stuurman KE, Õunap K, Pajusalu S, Wojcik MH, Vasileiou G, Le Guyader G, Schnelle HM, Berland S, Zonneveld-Huijssoon E, Kersten S, Gupta A, Blackburn PR, Ellingson MS, Ferber MJ, Dhamija R, Klee EW, McEntagart M, Lichtenbelt KD, Kenney A, Vergano SA, Abou Jamra R, Platzer K, Ella Pierpont M, Khattar D, Hopkin RJ, Martin RJ, Jongmans MCJ, Chang VY, Martinez-Agosto JA, Kuismin O, Kurki MI, Pietiläinen O, Palotie A, Maarup TJ, Johnson DS, Venborg Pedersen K, Laulund LW, Lynch SA, Blyth M, Prescott K, Canham N, Ibitoye R, Brilstra EH, Shinawi M, Fassi E; DDD Study, Sticht H, Gregor A, Van Esch H, Zweier C.

Genet Med. 2019 Dec;21(12):2723-2733. doi: 10.1038/s41436-019-0585-z. Epub 2019 Jun 26.

3.

NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly.

Schanze I, Bunt J, Lim JWC, Schanze D, Dean RJ, Alders M, Blanchet P, Attié-Bitach T, Berland S, Boogert S, Boppudi S, Bridges CJ, Cho MT, Dobyns WB, Donnai D, Douglas J, Earl DL, Edwards TJ, Faivre L, Fregeau B, Genevieve D, Gérard M, Gatinois V, Holder-Espinasse M, Huth SF, Izumi K, Kerr B, Lacaze E, Lakeman P, Mahida S, Mirzaa GM, Morgan SM, Nowak C, Peeters H, Petit F, Pilz DT, Puechberty J, Reinstein E, Rivière JB, Santani AB, Schneider A, Sherr EH, Smith-Hicks C, Wieland I, Zackai E, Zhao X, Gronostajski RM, Zenker M, Richards LJ.

Am J Hum Genet. 2018 Nov 1;103(5):752-768. doi: 10.1016/j.ajhg.2018.10.006.

4.

A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance.

Berland S, Toft-Bertelsen TL, Aukrust I, Byska J, Vaudel M, Bindoff LA, MacAulay N, Houge G.

Cold Spring Harb Mol Case Stud. 2018 Feb 1;4(1). pii: a002303. doi: 10.1101/mcs.a002303. Print 2018 Feb.

5.

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.

Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA.

Eur J Hum Genet. 2018 Jan;26(1):64-74. doi: 10.1038/s41431-017-0038-6. Epub 2017 Nov 27.

6.

Effect of crumb cellular structure characterized by image analysis on cake softness.

Dewaest M, Villemejane C, Berland S, Neron S, Clement J, Verel A, Michon C.

J Texture Stud. 2018 Jun;49(3):328-338. doi: 10.1111/jtxs.12303. Epub 2017 Nov 7.

PMID:
28976003
7.

Deep conservation of bivalve nacre proteins highlighted by shell matrix proteomics of the Unionoida Elliptio complanata and Villosa lienosa.

Marie B, Arivalagan J, Mathéron L, Bolbach G, Berland S, Marie A, Marin F.

J R Soc Interface. 2017 Jan;14(126). pii: 20160846. doi: 10.1098/rsif.2016.0846.

8.

The intronic ABCA4 c.5461-10T>C variant, frequently seen in patients with Stargardt disease, causes splice defects and reduced ABCA4 protein level.

Aukrust I, Jansson RW, Bredrup C, Rusaas HE, Berland S, Jørgensen A, Haug MG, Rødahl E, Houge G, Knappskog PM.

Acta Ophthalmol. 2017 May;95(3):240-246. doi: 10.1111/aos.13273. Epub 2016 Oct 24.

9.

Insights from the Shell Proteome: Biomineralization to Adaptation.

Arivalagan J, Yarra T, Marie B, Sleight VA, Duvernois-Berthet E, Clark MS, Marie A, Berland S.

Mol Biol Evol. 2017 Jan;34(1):66-77. doi: 10.1093/molbev/msw219. Epub 2016 Oct 15.

10.

Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.

Cohen JS, Srivastava S, Farwell Hagman KD, Shinde DN, Huether R, Darcy D, Wallerstein R, Houge G, Berland S, Monaghan KG, Poretti A, Wilson AL, Chung WK, Fatemi A.

Clin Genet. 2017 May;91(5):697-707. doi: 10.1111/cge.12861. Epub 2016 Oct 10.

PMID:
27598823
11.

EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis.

Martin-Almedina S, Martinez-Corral I, Holdhus R, Vicente A, Fotiou E, Lin S, Petersen K, Simpson MA, Hoischen A, Gilissen C, Jeffery H, Atton G, Karapouliou C, Brice G, Gordon K, Wiseman JW, Wedin M, Rockson SG, Jeffery S, Mortimer PS, Snyder MP, Berland S, Mansour S, Makinen T, Ostergaard P.

J Clin Invest. 2016 Aug 1;126(8):3080-8. doi: 10.1172/JCI85794. Epub 2016 Jul 11.

12.

Shell matrix proteins of the clam, Mya truncata: Roles beyond shell formation through proteomic study.

Arivalagan J, Marie B, Sleight VA, Clark MS, Berland S, Marie A.

Mar Genomics. 2016 Jun;27:69-74. doi: 10.1016/j.margen.2016.03.005. Epub 2016 Apr 5.

PMID:
27068305
13.

Characterisation of the mantle transcriptome and biomineralisation genes in the blunt-gaper clam, Mya truncata.

Sleight VA, Thorne MA, Peck LS, Arivalagan J, Berland S, Marie A, Clark MS.

Mar Genomics. 2016 Jun;27:47-55. doi: 10.1016/j.margen.2016.01.003. Epub 2016 Jan 14.

14.

Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy.

Wivestad Jansson R, Berland S, Bredrup C, Austeng D, Andréasson S, Wittström E.

Ophthalmic Genet. 2016 Jun;37(2):183-93. doi: 10.3109/13816810.2015.1020558. Epub 2015 Sep 2.

PMID:
26333019
15.

B56δ-related protein phosphatase 2A dysfunction identified in patients with intellectual disability.

Houge G, Haesen D, Vissers LE, Mehta S, Parker MJ, Wright M, Vogt J, McKee S, Tolmie JL, Cordeiro N, Kleefstra T, Willemsen MH, Reijnders MR, Berland S, Hayman E, Lahat E, Brilstra EH, van Gassen KL, Zonneveld-Huijssoon E, de Bie CI, Hoischen A, Eichler EE, Holdhus R, Steen VM, Døskeland SO, Hurles ME, FitzPatrick DR, Janssens V.

J Clin Invest. 2015 Aug 3;125(8):3051-62. doi: 10.1172/JCI79860. Epub 2015 Jul 13.

16.

[Special outpatient clinic for skeletal dysplasias].

Rosendahl K, Houge G, Gradek GA, Berland S, Fevang JM, Berentsen RD, Júlíusson PB.

Tidsskr Nor Laegeforen. 2015 Mar 10;135(5):419-20. doi: 10.4045/tidsskr.14.1022. eCollection 2015 Mar 10. Norwegian. No abstract available.

17.

Further delineation of the KAT6B molecular and phenotypic spectrum.

Gannon T, Perveen R, Schlecht H, Ramsden S, Anderson B, Kerr B, Day R, Banka S, Suri M, Berland S, Gabbett M, Ma A, Lyonnet S, Cormier-Daire V, Yilmaz R, Borck G, Wieczorek D, Anderlid BM, Smithson S, Vogt J, Moore-Barton H, Simsek-Kiper PO, Maystadt I, Destrée A, Bucher J, Angle B, Mohammed S, Wakeling E, Price S, Singer A, Sznajer Y, Toutain A, Haye D, Newbury-Ecob R, Fradin M, McGaughran J, Tuysuz B, Tein M, Bouman K, Dabir T, Van den Ende J, Luk HM, Pilz DT, Eason J, Davies S, Reardon W, Garavelli L, Zuffardi O, Devriendt K, Armstrong R, Johnson D, Doco-Fenzy M, Bijlsma E, Unger S, Veenstra-Knol HE, Kohlhase J, Lo IF; DDD study, Smith J, Clayton-Smith J.

Eur J Hum Genet. 2015 Sep;23(9):1165-70. doi: 10.1038/ejhg.2014.248. Epub 2014 Nov 26.

18.

Females with de novo aberrations in PHF6: clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome.

Zweier C, Rittinger O, Bader I, Berland S, Cole T, Degenhardt F, Di Donato N, Graul-Neumann L, Hoyer J, Lynch SA, Vlasak I, Wieczorek D.

Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):290-301. doi: 10.1002/ajmg.c.31408. Epub 2014 Aug 5. Review.

PMID:
25099957
19.

Biomineralization of Schlumbergerella floresiana, a significant carbonate-producing benthic foraminifer.

Sabbatini A, Bédouet L, Marie A, Bartolini A, Landemarre L, Weber MX, Gusti Ngurah Kade Mahardika I, Berland S, Zito F, Vénec-Peyré MT.

Geobiology. 2014 Jul;12(4):289-307. doi: 10.1111/gbi.12085. Epub 2014 Apr 2.

PMID:
24690273
20.

Haploinsufficiency of MEIS2 is associated with orofacial clefting and learning disability.

Johansson S, Berland S, Gradek GA, Bongers E, de Leeuw N, Pfundt R, Fannemel M, Rødningen O, Brendehaug A, Haukanes BI, Hovland R, Helland G, Houge G.

Am J Med Genet A. 2014 Jul;164A(7):1622-6. doi: 10.1002/ajmg.a.36498. Epub 2014 Mar 26.

PMID:
24678003
21.

Soil calcium availability influences shell ecophenotype formation in the sub-antarctic land snail, Notodiscus hookeri.

Charrier M, Marie A, Guillaume D, Bédouet L, Le Lannic J, Roiland C, Berland S, Pierre JS, Le Floch M, Frenot Y, Lebouvier M.

PLoS One. 2013 Dec 20;8(12):e84527. doi: 10.1371/journal.pone.0084527. eCollection 2013. Erratum in: PLoS One. 2014;9(3):e92541.

22.

What is the difference in organic matrix of aragonite vs. vaterite polymorph in natural shell and pearl? Study of the pearl-forming freshwater bivalve mollusc Hyriopsis cumingii.

Ma Y, Berland S, Andrieu JP, Feng Q, Bédouet L.

Mater Sci Eng C Mater Biol Appl. 2013 Apr 1;33(3):1521-9. doi: 10.1016/j.msec.2012.12.057. Epub 2012 Dec 23.

PMID:
23827604
23.

Evidence for anticipation in Beckwith-Wiedemann syndrome.

Berland S, Appelbäck M, Bruland O, Beygo J, Buiting K, Mackay DJ, Karen Temple I, Houge G.

Eur J Hum Genet. 2013 Dec;21(12):1344-8. doi: 10.1038/ejhg.2013.71. Epub 2013 Apr 10.

24.

Proteomic and profile analysis of the proteins laced with aragonite and vaterite in the freshwater mussel Hyriopsis cumingii shell biominerals.

Berland S, Ma Y, Marie A, Andrieu JP, Bedouet L, Feng Q.

Protein Pept Lett. 2013 Oct;20(10):1170-80.

PMID:
23409939
25.
26.

Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements.

Froyen G, Belet S, Martinez F, Santos-Rebouças CB, Declercq M, Verbeeck J, Donckers L, Berland S, Mayo S, Rosello M, Pimentel MM, Fintelman-Rodrigues N, Hovland R, Rodrigues dos Santos S, Raymond FL, Bose T, Corbett MA, Sheffield L, van Ravenswaaij-Arts CM, Dijkhuizen T, Coutton C, Satre V, Siu V, Marynen P.

Am J Hum Genet. 2012 Aug 10;91(2):252-64. doi: 10.1016/j.ajhg.2012.06.010. Epub 2012 Jul 26.

27.

PHF6 Deletions May Cause Borjeson-Forssman-Lehmann Syndrome in Females.

Berland S, Alme K, Brendehaug A, Houge G, Hovland R.

Mol Syndromol. 2011 Sep;1(6):294-300. Epub 2011 Jul 19.

28.

Proteomic strategy for identifying mollusc shell proteins using mild chemical degradation and trypsin digestion of insoluble organic shell matrix: a pilot study on Haliotis tuberculata.

Bédouet L, Marie A, Berland S, Marie B, Auzoux-Bordenave S, Marin F, Milet C.

Mar Biotechnol (NY). 2012 Aug;14(4):446-58. doi: 10.1007/s10126-011-9425-0. Epub 2011 Dec 13.

PMID:
22160345
29.

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

Banka S, Veeramachaneni R, Reardon W, Howard E, Bunstone S, Ragge N, Parker MJ, Crow YJ, Kerr B, Kingston H, Metcalfe K, Chandler K, Magee A, Stewart F, McConnell VP, Donnelly DE, Berland S, Houge G, Morton JE, Oley C, Revencu N, Park SM, Davies SJ, Fry AE, Lynch SA, Gill H, Schweiger S, Lam WW, Tolmie J, Mohammed SN, Hobson E, Smith A, Blyth M, Bennett C, Vasudevan PC, García-Miñaúr S, Henderson A, Goodship J, Wright MJ, Fisher R, Gibbons R, Price SM, C de Silva D, Temple IK, Collins AL, Lachlan K, Elmslie F, McEntagart M, Castle B, Clayton-Smith J, Black GC, Donnai D.

Eur J Hum Genet. 2012 Apr;20(4):381-8. doi: 10.1038/ejhg.2011.220. Epub 2011 Nov 30.

30.

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA.

Edery P, Marcaillou C, Sahbatou M, Labalme A, Chastang J, Touraine R, Tubacher E, Senni F, Bober MB, Nampoothiri S, Jouk PS, Steichen E, Berland S, Toutain A, Wise CA, Sanlaville D, Rousseau F, Clerget-Darpoux F, Leutenegger AL.

Science. 2011 Apr 8;332(6026):240-3. doi: 10.1126/science.1202205.

31.

Coupling proteomics and transcriptomics for the identification of novel and variant forms of mollusk shell proteins: a study with P. margaritifera.

Berland S, Marie A, Duplat D, Milet C, Sire JY, Bédouet L.

Chembiochem. 2011 Apr 11;12(6):950-61. doi: 10.1002/cbic.201000667. Epub 2011 Mar 14.

PMID:
21404418
32.

Late-onset gain of skills and peculiar jugular pit in an 11-year-old girl with 5q14.3 microdeletion including MEF2C.

Berland S, Houge G.

Clin Dysmorphol. 2010 Oct;19(4):222-4. doi: 10.1097/MCD.0b013e32833dc589. No abstract available.

PMID:
20729728
33.

Ultrastructure, chemistry and mineralogy of the growing shell of the European abalone Haliotis tuberculata.

Auzoux-Bordenave S, Badou A, Gaume B, Berland S, Helléouet MN, Milet C, Huchette S.

J Struct Biol. 2010 Sep;171(3):277-90. doi: 10.1016/j.jsb.2010.05.012. Epub 2010 May 27.

PMID:
20553887
34.

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.

Jenkins ZA, van Kogelenberg M, Morgan T, Jeffs A, Fukuzawa R, Pearl E, Thaller C, Hing AV, Porteous ME, Garcia-Miñaur S, Bohring A, Lacombe D, Stewart F, Fiskerstrand T, Bindoff L, Berland S, Adès LC, Tchan M, David A, Wilson LC, Hennekam RC, Donnai D, Mansour S, Cormier-Daire V, Robertson SP.

Nat Genet. 2009 Jan;41(1):95-100. doi: 10.1038/ng.270. Epub 2008 Dec 14.

PMID:
19079258
35.

The effect of molecules in mother-of-pearl on the decrease in bone resorption through the inhibition of osteoclast cathepsin K.

Duplat D, Gallet M, Berland S, Marie A, Dubost L, Rousseau M, Kamel S, Milet C, Brazier M, Lopez E, Bédouet L.

Biomaterials. 2007 Nov;28(32):4769-78. Epub 2007 Aug 7.

PMID:
17686515
36.

Proteomics analysis of the nacre soluble and insoluble proteins from the oyster Pinctada margaritifera.

Bédouet L, Marie A, Dubost L, Péduzzi J, Duplat D, Berland S, Puisségur M, Boulzaguet H, Rousseau M, Milet C, Lopez E.

Mar Biotechnol (NY). 2007 Sep-Oct;9(5):638-49. Epub 2007 Jul 21.

PMID:
17641930
37.

Heterogeneity of proteinase inhibitors in the water-soluble organic matrix from the oyster nacre.

Bédouet L, Duplat D, Marie A, Dubost L, Berland S, Rousseau M, Milet C, Lopez E.

Mar Biotechnol (NY). 2007 Jul-Aug;9(4):437-49. Epub 2007 Apr 3.

PMID:
17393253
38.

The in vitro osteoclastic degradation of nacre.

Duplat D, Chabadel A, Gallet M, Berland S, Bédouet L, Rousseau M, Kamel S, Milet C, Jurdic P, Brazier M, Lopez E.

Biomaterials. 2007 Apr;28(12):2155-62. Epub 2007 Jan 10.

PMID:
17258312
39.

Identification of low molecular weight molecules as new components of the nacre organic matrix.

Bédouet L, Rusconi F, Rousseau M, Duplat D, Marie A, Dubost L, Le Ny K, Berland S, Péduzzi J, Lopez E.

Comp Biochem Physiol B Biochem Mol Biol. 2006 Aug;144(4):532-43. Epub 2006 Jun 7.

PMID:
16828570
40.

Zona localization of shell matrix proteins in mantle of Haliotis tuberculata (Mollusca, Gastropoda).

Jolly C, Berland S, Milet C, Borzeix S, Lopez E, Doumenc D.

Mar Biotechnol (NY). 2004 Nov-Dec;6(6):541-51.

PMID:
15747090
41.

Nacre/bone interface changes in durable nacre endosseous implants in sheep.

Berland S, Delattre O, Borzeix S, Catonné Y, Lopez E.

Biomaterials. 2005 May;26(15):2767-73.

PMID:
15585281
42.

Effect of water soluble extract of nacre (Pinctada maxima) on alkaline phosphatase activity and Bcl-2 expression in primary cultured osteoblasts from neonatal rat calvaria.

Moutahir-Belqasmi F, Balmain N, Lieberrher M, Borzeix S, Berland S, Barthelemy M, Peduzzi J, Milet C, Lopez E.

J Mater Sci Mater Med. 2001 Jan;12(1):1-6.

PMID:
15348370
43.

Bioactivity of nacre water-soluble organic matrix from the bivalve mollusk Pinctada maxima in three mammalian cell types: fibroblasts, bone marrow stromal cells and osteoblasts.

Mouriès LP, Almeida MJ, Milet C, Berland S, Lopez E.

Comp Biochem Physiol B Biochem Mol Biol. 2002 May;132(1):217-29.

PMID:
11997223
44.

Arthrodesis of lumbar spine transverse processes using nacre in rabbit.

Lamghari M, Antonietti P, Berland S, Laurent A, Lopez E.

J Bone Miner Res. 2001 Dec;16(12):2232-7.

45.

Bone reactions to nacre injected percutaneously into the vertebrae of sheep.

Lamghari M, Berland S, Laurent A, Huet H, Lopez E.

Biomaterials. 2001 Mar;22(6):555-62.

PMID:
11219719
46.

Stimulation of rat cutaneous fibroblasts and their synthetic activity by implants of powdered nacre (mother of pearl).

Lopez E, Le Faou A, Borzeix S, Berland S.

Tissue Cell. 2000 Feb;32(1):95-101.

PMID:
10798323
47.

A model for evaluating injectable bone replacements in the vertebrae of sheep: radiological and histological study.

Lamghari M, Huet H, Laurent A, Berland S, Lopez E.

Biomaterials. 1999 Nov;20(22):2107-14.

PMID:
10555078
48.

Stimulation of bone marrow cells and bone formation by nacre: in vivo and in vitro studies.

Lamghari M, Almeida MJ, Berland S, Huet H, Laurent A, Milet C, Lopez E.

Bone. 1999 Aug;25(2 Suppl):91S-94S.

PMID:
10458284
49.

Interface between bone and nacre implants in sheep.

Atlan G, Delattre O, Berland S, LeFaou A, Nabias G, Cot D, Lopez E.

Biomaterials. 1999 Jun;20(11):1017-22.

PMID:
10378801
50.

Reconstruction of human maxillary defects with nacre powder: histological evidence for bone regeneration.

Atlan G, Balmain N, Berland S, Vidal B, Lopez E.

C R Acad Sci III. 1997 Mar;320(3):253-8.

PMID:
9183443

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