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Items: 1 to 50 of 195

1.

Clinical and multi-omics cross-phenotyping of patients with autoimmune and autoinflammatory diseases: the observational TRANSIMMUNOM protocol.

Lorenzon R, Mariotti-Ferrandiz E, Aheng C, Ribet C, Toumi F, Pitoiset F, Chaara W, Derian N, Johanet C, Drakos I, Harris S, Amselem S, Berenbaum F, Benveniste O, Bodaghi B, Cacoub P, Grateau G, Amouyal C, Hartemann A, Saadoun D, Sellam J, Seksik P, Sokol H, Salem JE, Vicaut E, Six A, Rosenzwajg M, Bernard C, Klatzmann D.

BMJ Open. 2018 Aug 30;8(8):e021037. doi: 10.1136/bmjopen-2017-021037.

2.

Photoaging and skin cancer: Is the inflammasome the missing link?

Awad F, Assrawi E, Louvrier C, Jumeau C, Giurgea I, Amselem S, Karabina SA.

Mech Ageing Dev. 2018 Jun;172:131-137. doi: 10.1016/j.mad.2018.03.003. Epub 2018 Mar 12. Review.

PMID:
29545203
3.

Inflammasome biology, molecular pathology and therapeutic implications.

Awad F, Assrawi E, Louvrier C, Jumeau C, Georgin-Lavialle S, Grateau G, Amselem S, Giurgea I, Karabina SA.

Pharmacol Ther. 2018 Jul;187:133-149. doi: 10.1016/j.pharmthera.2018.02.011. Epub 2018 Feb 18. Review.

PMID:
29466702
4.

Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia.

Lorès P, Coutton C, El Khouri E, Stouvenel L, Givelet M, Thomas L, Rode B, Schmitt A, Louis B, Sakheli Z, Chaudhry M, Fernandez-Gonzales A, Mitsialis A, Dacheux D, Wolf JP, Papon JF, Gacon G, Escudier E, Arnoult C, Bonhivers M, Savinov SN, Amselem S, Ray PF, Dulioust E, Touré A.

Hum Mol Genet. 2018 Apr 1;27(7):1196-1211. doi: 10.1093/hmg/ddy034.

PMID:
29365104
5.

Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias.

Peycelon M, Mansour-Hendili L, Hyon C, Collot N, Houang M, Legendre M, Chabaud M, Bouvier MD, Audry G, Amselem S, Siffroi JP.

Sex Dev. 2017;11(5-6):293-297. doi: 10.1159/000485909. Epub 2018 Jan 13.

PMID:
29332064
6.

Infertility in an adult cohort with primary ciliary dyskinesia: phenotype-gene association.

Vanaken GJ, Bassinet L, Boon M, Mani R, Honoré I, Papon JF, Cuppens H, Jaspers M, Lorent N, Coste A, Escudier E, Amselem S, Maitre B, Legendre M, Christin-Maitre S.

Eur Respir J. 2017 Nov 9;50(5). pii: 1700314. doi: 10.1183/13993003.00314-2017. Print 2017 Nov. No abstract available. Erratum in: Eur Respir J. 2017 Dec 14;50(6):.

PMID:
29122913
7.

Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.

Ryan R, Failler M, Reilly ML, Garfa-Traore M, Delous M, Filhol E, Reboul T, Bole-Feysot C, Nitschké P, Baudouin V, Amselem S, Escudier E, Legendre M, Benmerah A, Saunier S.

Hum Mol Genet. 2018 Jan 15;27(2):266-282. doi: 10.1093/hmg/ddx396.

PMID:
29121203
8.

Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis.

Juge PA, Borie R, Kannengiesser C, Gazal S, Revy P, Wemeau-Stervinou L, Debray MP, Ottaviani S, Marchand-Adam S, Nathan N, Thabut G, Richez C, Nunes H, Callebaut I, Justet A, Leulliot N, Bonnefond A, Salgado D, Richette P, Desvignes JP, Lioté H, Froguel P, Allanore Y, Sand O, Dromer C, Flipo RM, Clément A, Béroud C, Sibilia J, Coustet B, Cottin V, Boissier MC, Wallaert B, Schaeverbeke T, Dastot le Moal F, Frazier A, Ménard C, Soubrier M, Saidenberg N, Valeyre D, Amselem S; FREX consortium, Boileau C, Crestani B, Dieudé P.

Eur Respir J. 2017 May 11;49(5). pii: 1602314. doi: 10.1183/13993003.02314-2016. Print 2017 May.

PMID:
28495692
9.

Impact of human monocyte and macrophage polarization on NLR expression and NLRP3 inflammasome activation.

Awad F, Assrawi E, Jumeau C, Georgin-Lavialle S, Cobret L, Duquesnoy P, Piterboth W, Thomas L, Stankovic-Stojanovic K, Louvrier C, Giurgea I, Grateau G, Amselem S, Karabina SA.

PLoS One. 2017 Apr 12;12(4):e0175336. doi: 10.1371/journal.pone.0175336. eCollection 2017.

10.

AA amyloidosis is an emerging cause of nephropathy in obese patients.

Stankovic Stojanovic K, Georgin-Lavialle S, Poitou C, Buob D, Amselem S, Grateau G; AMYLOB Study Group.

Eur J Intern Med. 2017 Apr;39:e18-e20. doi: 10.1016/j.ejim.2017.02.004. Epub 2017 Feb 14. No abstract available.

PMID:
28214252
11.

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.

Olcese C, Patel MP, Shoemark A, Kiviluoto S, Legendre M, Williams HJ, Vaughan CK, Hayward J, Goldenberg A, Emes RD, Munye MM, Dyer L, Cahill T, Bevillard J, Gehrig C, Guipponi M, Chantot S, Duquesnoy P, Thomas L, Jeanson L, Copin B, Tamalet A, Thauvin-Robinet C, Papon JF, Garin A, Pin I, Vera G, Aurora P, Fassad MR, Jenkins L, Boustred C, Cullup T, Dixon M, Onoufriadis A, Bush A, Chung EM, Antonarakis SE, Loebinger MR, Wilson R, Armengot M, Escudier E, Hogg C; UK10K Rare Group, Amselem S, Sun Z, Bartoloni L, Blouin JL, Mitchison HM.

Nat Commun. 2017 Feb 8;8:14279. doi: 10.1038/ncomms14279.

12.

Concordance between CRP and SAA in familial Mediterranean fever during attack-free period: A study of 218 patients.

Stankovic Stojanovic K, Hentgen V, Fellahi S, Georgin-Lavialle S, Amselem S, Grateau G, Bastard JP, Steichen O.

Clin Biochem. 2017 Mar;50(4-5):206-209. doi: 10.1016/j.clinbiochem.2016.11.008. Epub 2016 Nov 10.

PMID:
27838405
13.

Surfactant protein A: A key player in lung homeostasis.

Nathan N, Taytard J, Duquesnoy P, Thouvenin G, Corvol H, Amselem S, Clement A.

Int J Biochem Cell Biol. 2016 Dec;81(Pt A):151-155. doi: 10.1016/j.biocel.2016.11.003. Epub 2016 Nov 9. Review.

PMID:
27836807
14.

Contribution of LHX4 Mutations to Pituitary Deficits in a Cohort of 417 Unrelated Patients.

Cohen E, Maghnie M, Collot N, Leger J, Dastot F, Polak M, Rose S, Touraine P, Duquesnoy P, Tauber M, Copin B, Bertrand AM, Brioude F, Larizza D, Edouard T, González Briceño L, Netchine I, Oliver-Petit I, Sobrier ML, Amselem S, Legendre M.

J Clin Endocrinol Metab. 2017 Jan 1;102(1):290-301. doi: 10.1210/jc.2016-3158.

PMID:
27820671
15.

Spondyloarthritis associated with familial Mediterranean fever: successful treatment with anakinra.

Georgin-Lavialle S, Stankovic Stojanovic K, Bachmeyer C, Sellam J, Abbara S, Awad F, Miquel A, Amselem S, Grateau G, M'Bappé P.

Rheumatology (Oxford). 2017 Jan;56(1):167-169. doi: 10.1093/rheumatology/kew290. Epub 2016 Aug 29. No abstract available.

PMID:
27576367
16.

Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility.

El Khouri E, Thomas L, Jeanson L, Bequignon E, Vallette B, Duquesnoy P, Montantin G, Copin B, Dastot-Le Moal F, Blanchon S, Papon JF, Lorès P, Yuan L, Collot N, Tissier S, Faucon C, Gacon G, Patrat C, Wolf JP, Dulioust E, Crestani B, Escudier E, Coste A, Legendre M, Touré A, Amselem S.

Am J Hum Genet. 2016 Aug 4;99(2):489-500. doi: 10.1016/j.ajhg.2016.06.022.

17.

Association of hidradenitis suppurativa and familial Mediterranean fever: A case series of 6 patients.

Abbara S, Georgin-Lavialle S, Stankovic Stojanovic K, Bachmeyer C, Senet P, Buob D, Audia S, Delcey V, Fellahi S, Bastard JP, Awad F, Legendre M, Amselem S, Grateau G.

Joint Bone Spine. 2017 Mar;84(2):159-162. doi: 10.1016/j.jbspin.2016.02.021. Epub 2016 May 26.

PMID:
27238193
18.

Mutations in GAS8, a Gene Encoding a Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia with Axonemal Disorganization.

Jeanson L, Thomas L, Copin B, Coste A, Sermet-Gaudelus I, Dastot-Le Moal F, Duquesnoy P, Montantin G, Collot N, Tissier S, Papon JF, Clement A, Louis B, Escudier E, Amselem S, Legendre M.

Hum Mutat. 2016 Aug;37(8):776-85. doi: 10.1002/humu.23005. Epub 2016 May 12.

PMID:
27120127
19.

Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation.

Masters SL, Lagou V, Jéru I, Baker PJ, Van Eyck L, Parry DA, Lawless D, De Nardo D, Garcia-Perez JE, Dagley LF, Holley CL, Dooley J, Moghaddas F, Pasciuto E, Jeandel PY, Sciot R, Lyras D, Webb AI, Nicholson SE, De Somer L, van Nieuwenhove E, Ruuth-Praz J, Copin B, Cochet E, Medlej-Hashim M, Megarbane A, Schroder K, Savic S, Goris A, Amselem S, Wouters C, Liston A.

Sci Transl Med. 2016 Mar 30;8(332):332ra45. doi: 10.1126/scitranslmed.aaf1471.

20.

Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer.

Nathan N, Giraud V, Picard C, Nunes H, Dastot-Le Moal F, Copin B, Galeron L, De Ligniville A, Kuziner N, Reynaud-Gaubert M, Valeyre D, Couderc LJ, Chinet T, Borie R, Crestani B, Simansour M, Nau V, Tissier S, Duquesnoy P, Mansour-Hendili L, Legendre M, Kannengiesser C, Coulomb-L'Hermine A, Gouya L, Amselem S, Clement A.

Hum Mol Genet. 2016 Apr 15;25(8):1457-67. doi: 10.1093/hmg/ddw014. Epub 2016 Jan 19.

PMID:
26792177
21.

Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.

Sobrier ML, Tsai YC, Pérez C, Leheup B, Bouceba T, Duquesnoy P, Copin B, Sizova D, Penzo A, Stanger BZ, Cooke NE, Liebhaber SA, Amselem S.

Hum Mol Genet. 2016 Feb 1;25(3):472-83. doi: 10.1093/hmg/ddv486. Epub 2015 Nov 26.

22.

Syndrome diagnosis with single-nucleotide polymorphism (SNP) microarray.

Edwards M, Brescianini S, Allgood C, Freelander M, Dunstan R, Patradoon-Ho P, Chin R, Morgan L, Pervez T, Legendre M, Burgess T, Amselem S, Whitehall J.

J Paediatr Child Health. 2016 Jan;52(1):85-9. doi: 10.1111/jpc.12981. Epub 2015 Jul 30. No abstract available.

PMID:
26228624
23.

Chronic myelomonocytic leukemia as a cause of fatal uncontrolled inflammation in familial Mediterranean fever.

Awad F, Georgin-Lavialle S, Brignier A, Derrieux C, Aouba A, Stankovic-Stojanovic K, Grateau G, Amselem S, Hermine O, Karabina SA.

Orphanet J Rare Dis. 2015 Jun 16;10:76. doi: 10.1186/s13023-015-0295-9.

24.

RSPH3 Mutations Cause Primary Ciliary Dyskinesia with Central-Complex Defects and a Near Absence of Radial Spokes.

Jeanson L, Copin B, Papon JF, Dastot-Le Moal F, Duquesnoy P, Montantin G, Cadranel J, Corvol H, Coste A, Désir J, Souayah A, Kott E, Collot N, Tissier S, Louis B, Tamalet A, de Blic J, Clement A, Escudier E, Amselem S, Legendre M.

Am J Hum Genet. 2015 Jul 2;97(1):153-62. doi: 10.1016/j.ajhg.2015.05.004. Epub 2015 Jun 11.

25.

[Chronic cutaneous lesions in a 73-year-old patient].

Abbara S, Bachmeyer C, Stankovic Stojanovic K, Amselem S, Grateau G, Georgin-Lavialle S, Couturier B, Cogan E.

Rev Med Interne. 2015 Sep;36(9):631-3. doi: 10.1016/j.revmed.2015.05.007. Epub 2015 Jun 4. French. No abstract available.

PMID:
26051190
26.

Biomarkers in Interstitial lung diseases.

Nathan N, Corvol H, Amselem S, Clement A.

Paediatr Respir Rev. 2015 Sep;16(4):219-24. doi: 10.1016/j.prrv.2015.05.002. Epub 2015 May 12. Review.

PMID:
26027849
27.

The c.301_302delAG PROP1 gene mutation in Romanian patients with multiple pituitary hormone deficiency.

Lazea C, Grigorescu-Sido P, Popp R, Legendre M, Amselem S, Al-Khzouz C, Bucerzan S, Creţ V, Crişan M, Brad C.

J Pediatr Endocrinol Metab. 2015 Sep;28(9-10):993-8. doi: 10.1515/jpem-2014-0289.

PMID:
25581745
28.

Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism.

Fritez N, Sobrier ML, Iraqi H, Vié-Luton MP, Netchine I, El Annas A, Pantel J, Collot N, Rose S, Piterboth W, Legendre M, Chraibi A, Amselem S, Kadiri A, Hilal L.

Clin Endocrinol (Oxf). 2015 Jun;82(6):876-84. doi: 10.1111/cen.12706. Epub 2015 Feb 6.

PMID:
25557026
29.

Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report.

Ratbi I, Fejjal N, Legendre M, Collot N, Amselem S, Sefiani A.

J Med Case Rep. 2014 Dec 29;8:471. doi: 10.1186/1752-1947-8-471.

30.

Proteomic analysis of nasal epithelial cells from cystic fibrosis patients.

Jeanson L, Guerrera IC, Papon JF, Chhuon C, Zadigue P, Prulière-Escabasse V, Amselem S, Escudier E, Coste A, Edelman A.

PLoS One. 2014 Sep 30;9(9):e108671. doi: 10.1371/journal.pone.0108671. eCollection 2014.

31.

Brief Report: Involvement of TNFRSF11A molecular defects in autoinflammatory disorders.

Jéru I, Cochet E, Duquesnoy P, Hentgen V, Copin B, Mitjavila-Garcia MT, Sheykholeslami S, Le Borgne G, Dastot-Le Moal F, Malan V, Karabina S, Mahevas M, Chantot-Bastaraud S, Lecron JC, Faivre L, Amselem S.

Arthritis Rheumatol. 2014 Sep;66(9):2621-7. doi: 10.1002/art.38727.

32.

Kohlschutter-Tonz syndrome: clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern Israel.

Mory A, Dagan E, Shahor I, Mandel H, Illi B, Zolotushko J, Kurolap A, Chechik E, Valente EM, Amselem S, Gershoni-Baruch R.

Pediatr Neurol. 2014 Apr;50(4):421-6. doi: 10.1016/j.pediatrneurol.2014.01.006. Epub 2014 Jan 7.

PMID:
24630287
33.

Characterization of SLC26A9 in patients with CF-like lung disease.

Bakouh N, Bienvenu T, Thomas A, Ehrenfeld J, Liote H, Roussel D, Duquesnoy P, Farman N, Viel M, Cherif-Zahar B, Amselem S, Taam RA, Edelman A, Planelles G, Sermet-Gaudelus I.

Hum Mutat. 2013 Oct;34(10):1404-14. doi: 10.1002/humu.22382. Epub 2013 Aug 13.

PMID:
24272871
34.

Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.

Kott E, Legendre M, Copin B, Papon JF, Dastot-Le Moal F, Montantin G, Duquesnoy P, Piterboth W, Amram D, Bassinet L, Beucher J, Beydon N, Deneuville E, Houdouin V, Journel H, Just J, Nathan N, Tamalet A, Collot N, Jeanson L, Le Gouez M, Vallette B, Vojtek AM, Epaud R, Coste A, Clement A, Housset B, Louis B, Escudier E, Amselem S.

Am J Hum Genet. 2013 Sep 5;93(3):561-70. doi: 10.1016/j.ajhg.2013.07.013. Epub 2013 Aug 29.

35.

Alveolar epithelial cells: master regulators of lung homeostasis.

Guillot L, Nathan N, Tabary O, Thouvenin G, Le Rouzic P, Corvol H, Amselem S, Clement A.

Int J Biochem Cell Biol. 2013 Nov;45(11):2568-73. doi: 10.1016/j.biocel.2013.08.009. Epub 2013 Aug 27. Review.

PMID:
23988571
36.

Involvement of the same TNFR1 residue in mendelian and multifactorial inflammatory disorders.

Jéru I, Charmion S, Cochet E, Copin B, Duquesnoy P, Garcia MT, Le Borgne G, Cathebras P, Gaillat J, Karabina S, Dodé C, Lohse P, Hentgen V, Amselem S.

PLoS One. 2013 Jul 24;8(7):e69757. doi: 10.1371/journal.pone.0069757. Print 2013.

37.

ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.

Zariwala MA, Gee HY, Kurkowiak M, Al-Mutairi DA, Leigh MW, Hurd TW, Hjeij R, Dell SD, Chaki M, Dougherty GW, Adan M, Spear PC, Esteve-Rudd J, Loges NT, Rosenfeld M, Diaz KA, Olbrich H, Wolf WE, Sheridan E, Batten TF, Halbritter J, Porath JD, Kohl S, Lovric S, Hwang DY, Pittman JE, Burns KA, Ferkol TW, Sagel SD, Olivier KN, Morgan LC, Werner C, Raidt J, Pennekamp P, Sun Z, Zhou W, Airik R, Natarajan S, Allen SJ, Amirav I, Wieczorek D, Landwehr K, Nielsen K, Schwerk N, Sertic J, Köhler G, Washburn J, Levy S, Fan S, Koerner-Rettberg C, Amselem S, Williams DS, Mitchell BJ, Drummond IA, Otto EA, Omran H, Knowles MR, Hildebrandt F.

Am J Hum Genet. 2013 Aug 8;93(2):336-45. doi: 10.1016/j.ajhg.2013.06.007. Epub 2013 Jul 25.

38.

The risk of familial Mediterranean fever in MEFV heterozygotes: a statistical approach.

Jéru I, Hentgen V, Cochet E, Duquesnoy P, Le Borgne G, Grimprel E, Stojanovic KS, Karabina S, Grateau G, Amselem S.

PLoS One. 2013 Jul 3;8(7):e68431. doi: 10.1371/journal.pone.0068431. Print 2013.

39.

How should we approach classification of autoinflammatory diseases?

Grateau G, Hentgen V, Stojanovic KS, Jéru I, Amselem S, Steichen O.

Nat Rev Rheumatol. 2013 Oct;9(10):624-9. doi: 10.1038/nrrheum.2013.101. Epub 2013 Jul 9. Review.

PMID:
23838615
40.

Atypical presentation of a cryopyrin-associated periodic syndrome, revealing a novel NLRP3 mutation.

Canouï E, Maigné G, Jéru I, Amselem S, Koné-Paut I, Lambotte O.

Clin Immunol. 2013 Aug;148(2):299-300. doi: 10.1016/j.clim.2013.05.020. Epub 2013 Jun 12. No abstract available.

41.

Evidence-based recommendations for the practical management of Familial Mediterranean Fever.

Hentgen V, Grateau G, Kone-Paut I, Livneh A, Padeh S, Rozenbaum M, Amselem S, Gershoni-Baruch R, Touitou I, Ben-Chetrit E.

Semin Arthritis Rheum. 2013 Dec;43(3):387-91. doi: 10.1016/j.semarthrit.2013.04.011. Epub 2013 Jun 3.

PMID:
23742958
42.

Primary ciliary dyskinesia presentation in 60 children according to ciliary ultrastructure.

Vallet C, Escudier E, Roudot-Thoraval F, Blanchon S, Fauroux B, Beydon N, Boulé M, Vojtek AM, Amselem S, Clément A, Tamalet A.

Eur J Pediatr. 2013 Aug;172(8):1053-60. doi: 10.1007/s00431-013-1996-5. Epub 2013 Apr 10.

PMID:
23571820
43.

Familial Mediterranean fever in heterozygotes: are we able to accurately diagnose the disease in very young children?

Hentgen V, Grateau G, Stankovic-Stojanovic K, Amselem S, Jéru I.

Arthritis Rheum. 2013 Jun;65(6):1654-62. doi: 10.1002/art.37935.

44.

Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.

Kott E, Duquesnoy P, Copin B, Legendre M, Dastot-Le Moal F, Montantin G, Jeanson L, Tamalet A, Papon JF, Siffroi JP, Rives N, Mitchell V, de Blic J, Coste A, Clement A, Escalier D, Touré A, Escudier E, Amselem S.

Am J Hum Genet. 2012 Nov 2;91(5):958-64. doi: 10.1016/j.ajhg.2012.10.003.

45.

Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study.

Papon JF, Bassinet L, Cariou-Patron G, Zerah-Lancner F, Vojtek AM, Blanchon S, Crestani B, Amselem S, Coste A, Housset B, Escudier E, Louis B.

Orphanet J Rare Dis. 2012 Oct 11;7:78. doi: 10.1186/1750-1172-7-78.

46.

The role of GHR and IGF1 genes in the genetic determination of African pygmies' short stature.

Becker NS, Verdu P, Georges M, Duquesnoy P, Froment A, Amselem S, Le Bouc Y, Heyer E.

Eur J Hum Genet. 2013 Jun;21(6):653-8. doi: 10.1038/ejhg.2012.223. Epub 2012 Oct 10.

47.

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia.

Blanchon S, Legendre M, Copin B, Duquesnoy P, Montantin G, Kott E, Dastot F, Jeanson L, Cachanado M, Rousseau A, Papon JF, Beydon N, Brouard J, Crestani B, Deschildre A, Désir J, Dollfus H, Leheup B, Tamalet A, Thumerelle C, Vojtek AM, Escalier D, Coste A, de Blic J, Clément A, Escudier E, Amselem S.

J Med Genet. 2012 Jun;49(6):410-6. doi: 10.1136/jmedgenet-2012-100867.

PMID:
22693285
48.

Screening of LHX2 in patients presenting growth retardation with posterior pituitary and ocular abnormalities.

Pérez C, Dastot-Le Moal F, Collot N, Legendre M, Abadie I, Bertrand AM, Amselem S, Sobrier ML.

Eur J Endocrinol. 2012 Jul;167(1):85-91. doi: 10.1530/EJE-12-0026. Epub 2012 Apr 24.

PMID:
22535646
49.

A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome.

Mory A, Dagan E, Illi B, Duquesnoy P, Mordechai S, Shahor I, Romani S, Hawash-Moustafa N, Mandel H, Valente EM, Amselem S, Gershoni-Baruch R.

Am J Hum Genet. 2012 Apr 6;90(4):708-14. doi: 10.1016/j.ajhg.2012.03.005.

50.

Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel LHX3 mutations.

Sobrier ML, Brachet C, Vié-Luton MP, Perez C, Copin B, Legendre M, Heinrichs C, Amselem S.

J Clin Endocrinol Metab. 2012 Mar;97(3):E503-9. doi: 10.1210/jc.2011-2095. Epub 2012 Jan 11.

PMID:
22238406

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