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Items: 1 to 50 of 57

1.

Central nervous system involvement in arthrogryposis multiplex congenita: Overview of causes, diagnosis, and care.

Dieterich K, Kimber E, Hall JG.

Am J Med Genet C Semin Med Genet. 2019 Sep;181(3):345-353. doi: 10.1002/ajmg.c.31732. Epub 2019 Aug 13.

PMID:
31410997
2.

The diagnostic workup in a patient with AMC: Overview of the clinical evaluation and paraclinical analyses with review of the literature.

Dieterich K, Le Tanno P, Kimber E, Jouk PS, Hall J, Giampietro P.

Am J Med Genet C Semin Med Genet. 2019 Sep;181(3):337-344. doi: 10.1002/ajmg.c.31730. Epub 2019 Aug 1.

PMID:
31368648
3.

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals.

Margot H, Boursier G, Duflos C, Sanchez E, Amiel J, Andrau JC, Arpin S, Brischoux-Boucher E, Boute O, Burglen L, Caille C, Capri Y, Collignon P, Conrad S, Cormier-Daire V, Delplancq G, Dieterich K, Dollfus H, Fradin M, Faivre L, Fernandes H, Francannet C, Gatinois V, Gerard M, Goldenberg A, Ghoumid J, Grotto S, Guerrot AM, Guichet A, Isidor B, Jacquemont ML, Julia S, Khau Van Kien P, Legendre M, Le Quan Sang KH, Leheup B, Lyonnet S, Magry V, Manouvrier S, Martin D, Morel G, Munnich A, Naudion S, Odent S, Perrin L, Petit F, Philip N, Rio M, Robbe J, Rossi M, Sarrazin E, Toutain A, Van Gils J, Vera G, Verloes A, Weber S, Whalen S, Sanlaville D, Lacombe D, Aladjidi N, Geneviève D.

Genet Med. 2019 Jul 31. doi: 10.1038/s41436-019-0623-x. [Epub ahead of print]

PMID:
31363182
4.

Erratum: Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Tabet AC, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, Capri Y, Verloes A, Drunat S, Keren B, Mignot C, Marey I, Jacquette A, Whalen S, Pipiras E, Benzacken B, Chantot-Bastaraud S, Afenjar A, Héron D, Le Caignec C, Beneteau C, Pichon O, Isidor B, David A, El Khattabi L, Kemeny S, Gouas L, Vago P, Mosca-Boidron AL, Faivre L, Missirian C, Philip N, Sanlaville D, Edery P, Satre V, Coutton C, Devillard F, Dieterich K, Vuillaume ML, Rooryck C, Lacombe D, Pinson L, Gatinois V, Puechberty J, Chiesa J, Lespinasse J, Dubourg C, Quelin C, Fradin M, Journel H, Toutain A, Martin D, Benmansour A, Leblond CS, Toro R, Amsellem F, Delorme R, Bourgeron T.

NPJ Genom Med. 2019 Jul 1;4:16. doi: 10.1038/s41525-019-0090-y. eCollection 2019.

5.

International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita.

Dahan-Oliel N, Cachecho S, Barnes D, Bedard T, Davison AM, Dieterich K, Donohoe M, Fąfara A, Hamdy R, Hjartarson HT, S Hoffman N, Kimber E, Komolkin I, Lester R, Pontén E, van Bosse HJP, Hall JG.

Am J Med Genet C Semin Med Genet. 2019 Sep;181(3):288-299. doi: 10.1002/ajmg.c.31721. Epub 2019 Jul 7.

6.

Classification of arthrogryposis.

Hall JG, Kimber E, Dieterich K.

Am J Med Genet C Semin Med Genet. 2019 Sep;181(3):300-303. doi: 10.1002/ajmg.c.31716. Epub 2019 Jul 4.

PMID:
31271512
7.

Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.

Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B.

Genet Med. 2019 Nov;21(11):2663. doi: 10.1038/s41436-019-0590-2.

PMID:
31267042
8.

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies.

Wahbi K, Ben Yaou R, Gandjbakhch E, Anselme F, Gossios T, Lakdawala NK, Stalens C, Sacher F, Babuty D, Trochu JN, Moubarak G, Savvatis K, Porcher R, Laforêt P, Fayssoil A, Marijon E, Stojkovic T, Béhin A, Leonard-Louis S, Sole G, Labombarda F, Richard P, Metay C, Quijano-Roy S, Dabaj I, Klug D, Vantyghem MC, Chevalier P, Ambrosi P, Salort E, Sadoul N, Waintraub X, Chikhaoui K, Mabo P, Combes N, Maury P, Sellal JM, Tedrow UB, Kalman JM, Vohra J, Androulakis AFA, Zeppenfeld K, Thompson T, Barnerias C, Bécane HM, Bieth E, Boccara F, Bonnet D, Bouhour F, Boulé S, Brehin AC, Chapon F, Cintas P, Cuisset JM, Davy JM, De Sandre-Giovannoli A, Demurger F, Desguerre I, Dieterich K, Durigneux J, Echaniz-Laguna A, Eschalier R, Ferreiro A, Ferrer X, Francannet C, Fradin M, Gaborit B, Gay A, Hagège A, Isapof A, Jeru I, Juntas Morales R, Lagrue E, Lamblin N, Lascols O, Laugel V, Lazarus A, Leturcq F, Levy N, Magot A, Manel V, Martins R, Mayer M, Mercier S, Meune C, Michaud M, Minot-Myhié MC, Muchir A, Nadaj-Pakleza A, Péréon Y, Petiot P, Petit F, Praline J, Rollin A, Sabouraud P, Sarret C, Schaeffer S, Taithe F, Tard C, Tiffreau V, Toutain A, Vatier C, Walther-Louvier U, Eymard B, Charron P, Vigouroux C, Bonne G, Kumar S, Elliott P, Duboc D.

Circulation. 2019 Jul 23;140(4):293-302. doi: 10.1161/CIRCULATIONAHA.118.039410. Epub 2019 Jun 3.

PMID:
31155932
9.

Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.

Nizon M, Laugel V, Flanigan KM, Pastore M, Waldrop MA, Rosenfeld JA, Marom R, Xiao R, Gerard A, Pichon O, Le Caignec C, Gérard M, Dieterich K, Truitt Cho M, McWalter K, Hiatt S, Thompson ML, Bézieau S, Wadley A, Wierenga KJ, Egly JM, Isidor B.

Genet Med. 2019 Jun 3. doi: 10.1038/s41436-019-0557-3. [Epub ahead of print] Erratum in: Genet Med. 2019 Jul 3;:.

PMID:
31155615
10.

LRSAM1 variants and founder effect in French families with ataxic form of Charcot-Marie-Tooth type 2.

Peretti A, Perie M, Vincent D, Bouhour F, Dieterich K, Mallaret M, Duval F, Goizet C, Juntas-Morales R, Magy L, Solé G, Nollet S, Not A, Léonard-Louis S, Francou B, Leguern E, Lia AS, Magdelaine C, Latour P, Stojkovic T.

Eur J Hum Genet. 2019 Sep;27(9):1406-1418. doi: 10.1038/s41431-019-0403-8. Epub 2019 Apr 17.

PMID:
30996334
11.

Author response: Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype.

Dai S, Dieterich K, Jaeger M, Wuyam B, Jouk PS, Pérennou D.

Neurology. 2019 Mar 26;92(13):636. doi: 10.1212/WNL.0000000000007169. No abstract available.

PMID:
30910944
12.

CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings.

Carrera-García L, Natera-de Benito D, Dieterich K, de la Banda MGG, Felter A, Inarejos E, Codina A, Jou C, Roldan M, Palau F, Hoenicka J, Pijuan J, Ortez C, Expósito-Escudero J, Durand C, Nugues F, Jimenez-Mallebrera C, Colomer J, Carlier RY, Lochmüller H, Quijano-Roy S, Nascimento A.

Am J Med Genet A. 2019 Jun;179(6):915-926. doi: 10.1002/ajmg.a.61122. Epub 2019 Mar 14.

PMID:
30868735
13.

Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis.

Poreau B, Ramond F, Harbuz R, Satre V, Barro C, Vettier C, Adouard V, Thevenon J, Jouk PS, Coutton C, Touraine R, Dieterich K.

Am J Med Genet A. 2019 Apr;179(4):650-654. doi: 10.1002/ajmg.a.61057. Epub 2019 Feb 8.

PMID:
30737907
14.

Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study.

Viguier A, Lauwers-Cances V, Cintas P, Manel V, Peudenier S, Desguerre I, Quijano-Roy S, Vanhulle C, Fradin M, Isapof A, Jokic M, Mathieu-Dramard M, Dieterich K, Petit F, Magdelaine C, Giuliano F, Gras D, Haye D, Nizon M, Magen M, Bieth E, Cances C.

Neuromuscul Disord. 2019 Feb;29(2):114-126. doi: 10.1016/j.nmd.2018.10.002. Epub 2018 Oct 31.

PMID:
30598237
15.

Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype.

Dai S, Dieterich K, Jaeger M, Wuyam B, Jouk PS, Pérennou D.

Neurology. 2018 May 1;90(18):e1596-e1604. doi: 10.1212/WNL.0000000000005418. Epub 2018 Apr 6.

PMID:
29626181
16.

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
17.

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

Tabet AC, Rolland T, Ducloy M, Lévy J, Buratti J, Mathieu A, Haye D, Perrin L, Dupont C, Passemard S, Capri Y, Verloes A, Drunat S, Keren B, Mignot C, Marey I, Jacquette A, Whalen S, Pipiras E, Benzacken B, Chantot-Bastaraud S, Afenjar A, Héron D, Le Caignec C, Beneteau C, Pichon O, Isidor B, David A, El Khattabi L, Kemeny S, Gouas L, Vago P, Mosca-Boidron AL, Faivre L, Missirian C, Philip N, Sanlaville D, Edery P, Satre V, Coutton C, Devillard F, Dieterich K, Vuillaume ML, Rooryck C, Lacombe D, Pinson L, Gatinois V, Puechberty J, Chiesa J, Lespinasse J, Dubourg C, Quelin C, Fradin M, Journel H, Toutain A, Martin D, Benmansour A, Leblond CS, Toro R, Amsellem F, Delorme R, Bourgeron T.

NPJ Genom Med. 2017 Oct 23;2:32. doi: 10.1038/s41525-017-0035-2. eCollection 2017. Erratum in: NPJ Genom Med. 2019 Jul 1;4:16.

18.

"Lowe syndrome: A particularly severe phenotype without clinical kidney involvement".

Abdalla E, El-Beheiry A, Dieterich K, Thevenon J, Fauré J, Rendu J.

Am J Med Genet A. 2018 Feb;176(2):460-464. doi: 10.1002/ajmg.a.38572. Epub 2017 Dec 11.

PMID:
29226564
19.

Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis.

Abiusi E, D'Alessandro M, Dieterich K, Quevarec L, Turczynski S, Valfort AC, Mezin P, Jouk PS, Gut M, Gut I, Bessereau JL, Melki J.

Hum Mol Genet. 2017 Oct 15;26(20):3989-3994. doi: 10.1093/hmg/ddx288.

PMID:
29016857
20.

[Type 1 neurofibromatosis: Onset of two tumors before the age of 5years].

Remillieux M, Durand C, Sartelet H, Piolat C, Bourgeois E, Pommier P, Hameury F, Dieterich K, Vidaud D, Perret C.

Arch Pediatr. 2017 Oct;24(10):986-990. doi: 10.1016/j.arcped.2017.08.009. Epub 2017 Sep 1. French.

PMID:
28870819
21.

PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans.

Le Tanno P, Breton J, Bidart M, Satre V, Harbuz R, Ray PF, Bosson C, Dieterich K, Jaillard S, Odent S, Poke G, Beddow R, Digilio MC, Novelli A, Bernardini L, Pisanti MA, Mackenroth L, Hackmann K, Vogel I, Christensen R, Fokstuen S, Béna F, Amblard F, Devillard F, Vieville G, Apostolou A, Jouk PS, Guebre-Egziabher F, Sartelet H, Coutton C.

J Med Genet. 2017 Jul;54(7):502-510. doi: 10.1136/jmedgenet-2016-104435. Epub 2017 Mar 7.

PMID:
28270404
22.

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.

Mattioli F, Schaefer E, Magee A, Mark P, Mancini GM, Dieterich K, Von Allmen G, Alders M, Coutton C, van Slegtenhorst M, Vieville G, Engelen M, Cobben JM, Juusola J, Pujol A, Mandel JL, Piton A.

Am J Hum Genet. 2017 Jan 5;100(1):105-116. doi: 10.1016/j.ajhg.2016.11.010. Epub 2016 Dec 8.

23.

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.

Clin Genet. 2017 Apr;91(4):576-588. doi: 10.1111/cge.12898. Epub 2017 Feb 16.

PMID:
27761913
24.

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
25.

13q31.1 microdeletion: A prenatal case report with macrocephaly and macroglossia.

Poreau B, Lin S, Bosson C, Dieterich K, Satre V, Devillard F, Guigue V, Ronin C, Brouillet S, Barbier C, Jouk PS, Coutton C.

Eur J Med Genet. 2015 Oct;58(10):526-30. doi: 10.1016/j.ejmg.2015.09.003. Epub 2015 Sep 10.

PMID:
26365529
26.

[Schooling and care of mild intellectual disability children].

David M, Billette de Villemeur A, Devillard F, Dieterich K, Jouk PS, Prado C, Descotes A, Guillon JL, Counillon J, Bloch J, Cans C.

Arch Pediatr. 2015 Mar;22(3):223-34. doi: 10.1016/j.arcped.2014.12.006. Epub 2015 Feb 2. French.

PMID:
25656456
27.

Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.

Hufnagel RB, Arno G, Hein ND, Hersheson J, Prasad M, Anderson Y, Krueger LA, Gregory LC, Stoetzel C, Jaworek TJ, Hull S, Li A, Plagnol V, Willen CM, Morgan TM, Prows CA, Hegde RS, Riazuddin S, Grabowski GA, Richardson RJ, Dieterich K, Huang T, Revesz T, Martinez-Barbera JP, Sisk RA, Jefferies C, Houlden H, Dattani MT, Fink JK, Dollfus H, Moore AT, Ahmed ZM.

J Med Genet. 2015 Feb;52(2):85-94. doi: 10.1136/jmedgenet-2014-102856. Epub 2014 Dec 5.

PMID:
25480986
28.

Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures.

Thevenon J, Monnier N, Callier P, Dieterich K, Francoise M, Montgomery T, Kjaergaard S, Neas K, Dixon J, Dahm TL, Huet F, Ragon C, Mosca-Boidron AL, Marle N, Duplomb L, Aubriot-Lorton MH, Mugneret F, Vokes SA, Tucker HW, Lunardi J, Faivre L, Jouk PS, Thauvin-Robinet C.

Am J Med Genet A. 2014 Dec;164A(12):3027-34. doi: 10.1002/ajmg.a.36751. Epub 2014 Sep 24.

PMID:
25258245
29.

Array-CGH in children with mild intellectual disability: a population-based study.

Coutton C, Dieterich K, Satre V, Vieville G, Amblard F, David M, Cans C, Jouk PS, Devillard F.

Eur J Pediatr. 2015 Jan;174(1):75-83. doi: 10.1007/s00431-014-2367-6. Epub 2014 Jul 3.

PMID:
24985125
30.

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

Laquérriere A, Maluenda J, Camus A, Fontenas L, Dieterich K, Nolent F, Zhou J, Monnier N, Latour P, Gentil D, Héron D, Desguerres I, Landrieu P, Beneteau C, Delaporte B, Bellesme C, Baumann C, Capri Y, Goldenberg A, Lyonnet S, Bonneau D, Estournet B, Quijano-Roy S, Francannet C, Odent S, Saint-Frison MH, Sigaudy S, Figarella-Branger D, Gelot A, Mussini JM, Lacroix C, Drouin-Garraud V, Malinge MC, Attié-Bitach T, Bessieres B, Bonniere M, Encha-Razavi F, Beaufrère AM, Khung-Savatovsky S, Perez MJ, Vasiljevic A, Mercier S, Roume J, Trestard L, Saugier-Veber P, Cordier MP, Layet V, Legendre M, Vigouroux-Castera A, Lunardi J, Bayes M, Jouk PS, Rigonnot L, Granier M, Sternberg D, Warszawski J, Gut I, Gonzales M, Tawk M, Melki J.

Hum Mol Genet. 2014 May 1;23(9):2279-89. doi: 10.1093/hmg/ddt618. Epub 2013 Dec 6.

PMID:
24319099
31.

Prevalence and characteristics of children with mild intellectual disability in a French county.

David M, Dieterich K, Billette de Villemeur A, Jouk PS, Counillon J, Larroque B, Bloch J, Cans C.

J Intellect Disabil Res. 2014 Jul;58(7):591-602. doi: 10.1111/jir.12057. Epub 2013 Jun 10.

PMID:
23750884
32.

The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.

Dieterich K, Quijano-Roy S, Monnier N, Zhou J, Fauré J, Smirnow DA, Carlier R, Laroche C, Marcorelles P, Mercier S, Mégarbané A, Odent S, Romero N, Sternberg D, Marty I, Estournet B, Jouk PS, Melki J, Lunardi J.

Hum Mol Genet. 2013 Apr 15;22(8):1483-92. doi: 10.1093/hmg/dds514. Epub 2012 Dec 11.

PMID:
23236030
33.

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.

Gordon CT, Petit F, Oufadem M, Decaestecker C, Jourdain AS, Andrieux J, Malan V, Alessandri JL, Baujat G, Baumann C, Boute-Benejean O, Caumes R, Delobel B, Dieterich K, Gaillard D, Gonzales M, Lacombe D, Escande F, Manouvrier-Hanu S, Marlin S, Mathieu-Dramard M, Mehta SG, Simonic I, Munnich A, Vekemans M, Porchet N, de Pontual L, Sarnacki S, Attie-Bitach T, Lyonnet S, Holder-Espinasse M, Amiel J.

J Med Genet. 2012 Dec;49(12):737-46. doi: 10.1136/jmedgenet-2012-101173.

PMID:
23188108
34.

[A rare cause of respiratory failure in infants: distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)].

Chalançon M, Debillon T, Dieterich K, Commare MC.

Arch Pediatr. 2012 Oct;19(10):1082-5. doi: 10.1016/j.arcped.2012.07.020. Epub 2012 Sep 13. French.

PMID:
22981475
35.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Jacquemont S, Reymond A, Zufferey F, Harewood L, Walters RG, Kutalik Z, Martinet D, Shen Y, Valsesia A, Beckmann ND, Thorleifsson G, Belfiore M, Bouquillon S, Campion D, de Leeuw N, de Vries BB, Esko T, Fernandez BA, Fernández-Aranda F, Fernández-Real JM, Gratacòs M, Guilmatre A, Hoyer J, Jarvelin MR, Kooy RF, Kurg A, Le Caignec C, Männik K, Platt OS, Sanlaville D, Van Haelst MM, Villatoro Gomez S, Walha F, Wu BL, Yu Y, Aboura A, Addor MC, Alembik Y, Antonarakis SE, Arveiler B, Barth M, Bednarek N, Béna F, Bergmann S, Beri M, Bernardini L, Blaumeiser B, Bonneau D, Bottani A, Boute O, Brunner HG, Cailley D, Callier P, Chiesa J, Chrast J, Coin L, Coutton C, Cuisset JM, Cuvellier JC, David A, de Freminville B, Delobel B, Delrue MA, Demeer B, Descamps D, Didelot G, Dieterich K, Disciglio V, Doco-Fenzy M, Drunat S, Duban-Bedu B, Dubourg C, El-Sayed Moustafa JS, Elliott P, Faas BH, Faivre L, Faudet A, Fellmann F, Ferrarini A, Fisher R, Flori E, Forer L, Gaillard D, Gerard M, Gieger C, Gimelli S, Gimelli G, Grabe HJ, Guichet A, Guillin O, Hartikainen AL, Heron D, Hippolyte L, Holder M, Homuth G, Isidor B, Jaillard S, Jaros Z, Jiménez-Murcia S, Helas GJ, Jonveaux P, Kaksonen S, Keren B, Kloss-Brandstätter A, Knoers NV, Koolen DA, Kroisel PM, Kronenberg F, Labalme A, Landais E, Lapi E, Layet V, Legallic S, Leheup B, Leube B, Lewis S, Lucas J, MacDermot KD, Magnusson P, Marshall C, Mathieu-Dramard M, McCarthy MI, Meitinger T, Mencarelli MA, Merla G, Moerman A, Mooser V, Morice-Picard F, Mucciolo M, Nauck M, Ndiaye NC, Nordgren A, Pasquier L, Petit F, Pfundt R, Plessis G, Rajcan-Separovic E, Ramelli GP, Rauch A, Ravazzolo R, Reis A, Renieri A, Richart C, Ried JS, Rieubland C, Roberts W, Roetzer KM, Rooryck C, Rossi M, Saemundsen E, Satre V, Schurmann C, Sigurdsson E, Stavropoulos DJ, Stefansson H, Tengström C, Thorsteinsdóttir U, Tinahones FJ, Touraine R, Vallée L, van Binsbergen E, Van der Aa N, Vincent-Delorme C, Visvikis-Siest S, Vollenweider P, Völzke H, Vulto-van Silfhout AT, Waeber G, Wallgren-Pettersson C, Witwicki RM, Zwolinksi S, Andrieux J, Estivill X, Gusella JF, Gustafsson O, Metspalu A, Scherer SW, Stefansson K, Blakemore AI, Beckmann JS, Froguel P.

Nature. 2011 Aug 31;478(7367):97-102. doi: 10.1038/nature10406.

36.

A [c.566-2A>G] heterozygous mutation in the PAX6 gene causes aniridia with mild visual impairment.

Beby F, Dieterich K, Calvas P.

Eye (Lond). 2011 May;25(5):657-8. doi: 10.1038/eye.2010.234. Epub 2011 Jan 28. No abstract available.

37.

Brachytelephalangic chondrodysplasia punctata: prenatal diagnosis and postnatal outcome.

Boulet S, Dieterich K, Althuser M, Nugues F, Durand C, Charra C, Schaal JP, Jouk PS.

Fetal Diagn Ther. 2010;28(3):186-90. doi: 10.1159/000297289. Epub 2010 Jun 3.

PMID:
20523025
38.

[Function of aurora kinase C (AURKC) in human reproduction].

Harbuz R, Zouari R, Dieterich K, Nikas Y, Lunardi J, Hennebicq S, Ray PF.

Gynecol Obstet Fertil. 2009 Jun;37(6):546-51. doi: 10.1016/j.gyobfe.2009.04.002. Epub 2009 May 17. French.

PMID:
19447663
39.

Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy.

Monnier N, Lunardi J, Marty I, Mezin P, Labarre-Vila A, Dieterich K, Jouk PS.

Neuromuscul Disord. 2009 Feb;19(2):118-23. doi: 10.1016/j.nmd.2008.11.009. Epub 2009 Jan 19.

PMID:
19155175
40.

The Aurora Kinase C c.144delC mutation causes meiosis I arrest in men and is frequent in the North African population.

Dieterich K, Zouari R, Harbuz R, Vialard F, Martinez D, Bellayou H, Prisant N, Zoghmar A, Guichaoua MR, Koscinski I, Kharouf M, Noruzinia M, Nadifi S, Sefiani A, Lornage J, Zahi M, Viville S, Sèle B, Jouk PS, Jacob MC, Escalier D, Nikas Y, Hennebicq S, Lunardi J, Ray PF.

Hum Mol Genet. 2009 Apr 1;18(7):1301-9. doi: 10.1093/hmg/ddp029. Epub 2009 Jan 15.

PMID:
19147683
41.

Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility.

Dieterich K, Soto Rifo R, Faure AK, Hennebicq S, Ben Amar B, Zahi M, Perrin J, Martinez D, Sèle B, Jouk PS, Ohlmann T, Rousseaux S, Lunardi J, Ray PF.

Nat Genet. 2007 May;39(5):661-5. Epub 2007 Apr 15.

PMID:
17435757
42.

Mutation analysis of leukemia inhibitory factor-receptor (LIF-R) in ACTH-secreting pituitary adenomas.

Heutling D, Dieterich KD, Buchfelder M, Lehnert H.

Exp Clin Endocrinol Diabetes. 2004 Sep;112(8):458-61.

PMID:
15372367
43.

[Five hundred outpatient hernioplasties using the Lichtenstein method].

Dieterich K, Eichhorn J.

Chirurg. 2004 Sep;75(9):890-5. German.

PMID:
15112046
44.

Expression of members of the interleukin-6 family of cytokines and their receptors in human pituitary and pituitary adenomas.

Hanisch A, Dieterich KD, Dietzmann K, Lüdecke K, Buchfelder M, Fahlbusch R, Lehnert H.

J Clin Endocrinol Metab. 2000 Nov;85(11):4411-4.

PMID:
11095488
45.

Decreased expression of corticotropin-releasing factor-binding protein mRNA in ACTH-secreting pituitary adenomas.

Dieterich KD, Lehnert H.

Exp Clin Endocrinol Diabetes. 2000;108(1):59-62.

PMID:
10768834
46.
47.

Mutation and expression analysis of corticotropin-releasing factor 1 receptor in adrenocorticotropin-secreting pituitary adenomas.

Dieterich KD, Gundelfinger ED, Lüdecke DK, Lehnert H.

J Clin Endocrinol Metab. 1998 Sep;83(9):3327-31.

PMID:
9745449
48.
49.

[Endoscopic hernia surgery (TAPP)--gold standard in management of recurrent hernias? Comment on the contribution by B. Leibl et al].

Eichhorn J, Dieterich K.

Chirurg. 1997 Apr;68(4):447; author reply 448-50. German. No abstract available.

PMID:
9206644
50.

Corticotropin-releasing factor receptors: an overview.

Dieterich KD, Lehnert H, De Souza EB.

Exp Clin Endocrinol Diabetes. 1997;105(2):65-82. Review.

PMID:
9137936

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