Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 140

1.

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet JB, Carmignac V, Garret P, Bessis D, Boute O, Bron A, Captier G, Carmi E, Devauchelle B, Geneviève D, Gondry-Jouet C, Guibaud L, Lafon A, Mathieu-Dramard M, Thevenon J, Dobyns WB, Bernard G, Polubothu S, Faravelli F, Kinsler VA, Thauvin C, Faivre L, Ross ME, Rivière JB.

Nat Genet. 2020 Feb 7. doi: 10.1038/s41588-019-0565-x. [Epub ahead of print]

PMID:
32034319
2.

Prenatal imaging patterns of the different forms of infantile myofibromatosis.

Fraissenon A, Benchimol G, Cabet S, Brasseur-Daudruy M, Sonigo P, Salomon L, Guibaud L.

Ultrasound Obstet Gynecol. 2020 Jan 7. doi: 10.1002/uog.21964. [Epub ahead of print] No abstract available.

PMID:
31909539
3.

Topical sirolimus 0.1% for treating cutaneous microcystic lymphatic malformations in children and adults (TOPICAL): protocol for a multicenter phase 2, within-person, randomized, double-blind, vehicle-controlled clinical trial.

Leducq S, Caille A, Barbarot S, Bénéton N, Bessis D, Boccara O, Bursztejn AC, Chiaverini C, Dompmartin A, Droitcourt C, Gissot V, Goga D, Guibaud L, Herbreteau D, Le Touze A, Léauté-Labrèze C, Lorette G, Mallet S, Martin L, Mazereeuw-Hautier J, Phan A, Plantin P, Quéré I, Vabres P, Bourgoin H, Giraudeau B, Maruani A; Groupe de Recherche de la Société Française de Dermatologie Pédiatrique.

Trials. 2019 Dec 17;20(1):739. doi: 10.1186/s13063-019-3767-8.

4.

Prenatal imaging diagnosis of PIK3CA-related overgrowth spectrum (PROS) disorders in the first trimester with emphasis on the extremities.

Fraissenon A, Cabet S, Fichez A, Abel C, Canaud G, Guibaud L.

Ultrasound Obstet Gynecol. 2019 Dec 9. doi: 10.1002/uog.21942. [Epub ahead of print] No abstract available.

PMID:
31816130
5.

Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy.

Cabet S, Putoux A, Buenerd A, Gueneau L, Reymond A, Thia EWH, Lai AHM, Schindewolf EM, Sanlaville D, Lesca G, Guibaud L.

Prenat Diagn. 2020 Jan;40(2):276-281. doi: 10.1002/pd.5589. Epub 2019 Dec 5. No abstract available.

PMID:
31736083
6.

Author Correction: Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet JB, Carmignac V, Garret P, Bessis D, Boute O, Bron A, Captier G, Carmi E, Devauchelle B, Geneviève D, Gondry-Jouet C, Guibaud L, Lafon A, Mathieu-Dramard M, Thevenon J, Dobyns WB, Bernard G, Polubothu S, Faravelli F, Kinsler VA, Thauvin C, Faivre L, Ross ME, Rivière JB.

Nat Genet. 2019 Nov;51(11):1660. doi: 10.1038/s41588-019-0527-3.

PMID:
31611689
7.

A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants.

Chatron N, Cabet S, Alix E, Buenerd A, Cox P, Guibaud L, Labalme A, Marks P, Osio D, Putoux A, Sanlaville D, Lesca G, Vasiljevic A.

Brain. 2019 Nov 1;142(11):3367-3374. doi: 10.1093/brain/awz272.

PMID:
31608932
8.

Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome.

Vabres P, Sorlin A, Kholmanskikh SS, Demeer B, St-Onge J, Duffourd Y, Kuentz P, Courcet JB, Carmignac V, Garret P, Bessis D, Boute O, Bron A, Captier G, Carmi E, Devauchelle B, Geneviève D, Gondry-Jouet C, Guibaud L, Lafon A, Mathieu-Dramard M, Thevenon J, Dobyns WB, Bernard G, Polubothu S, Faravelli F, Kinsler VA, Thauvin C, Faivre L, Ross ME, Rivière JB.

Nat Genet. 2019 Oct;51(10):1438-1441. doi: 10.1038/s41588-019-0498-4. Epub 2019 Sep 30. Erratum in: Nat Genet. 2019 Nov;51(11):1660. Nat Genet. 2020 Feb 7;:.

PMID:
31570889
9.

A novel truncating variant p.(Arg297*) in the GRM1 gene causing autosomal-recessive cerebellar ataxia with juvenile-onset.

Cabet S, Putoux A, Carneiro M, Labalme A, Sanlaville D, Guibaud L, Lesca G.

Eur J Med Genet. 2019 Oct;62(10):103726. doi: 10.1016/j.ejmg.2019.103726. Epub 2019 Jul 15.

PMID:
31319223
10.

Fetal and perinatal outcome associated with small cerebellar diameter based on second- or third-trimester ultrasonography.

Atallah A, Guibaud L, Gaucherand P, Massardier J, des Portes V, Massoud M.

Prenat Diagn. 2019 Jun;39(7):536-543. doi: 10.1002/pd.5465. Epub 2019 May 29.

PMID:
31017299
11.

Author Correction: Targeted therapy in patients with PIK3CA-related overgrowth syndrome.

Venot Q, Blanc T, Rabia SH, Berteloot L, Ladraa S, Duong JP, Blanc E, Johnson SC, Hoguin C, Boccara O, Sarnacki S, Boddaert N, Pannier S, Martinez F, Magassa S, Yamaguchi J, Knebelmann B, Merville P, Grenier N, Joly D, Cormier-Daire V, Michot C, Bole-Feysot C, Picard A, Soupre V, Lyonnet S, Sadoine J, Slimani L, Chaussain C, Laroche-Raynaud C, Guibaud L, Broissand C, Amiel J, Legendre C, Terzi F, Canaud G.

Nature. 2019 Apr;568(7752):E6. doi: 10.1038/s41586-019-1109-3.

PMID:
30944482
12.

Isolated antenatal hydrocephalus after foetal exposure to misoprostol : a teratogenic effect of the cytotec® ?

Beuriat PA, Cattiaux L, Guibaud L, Szathmari A, Sabatier I, Rousselle C, Mottolese C, Di Rocco F.

World Neurosurg. 2019 Jan 10. pii: S1878-8750(19)30047-6. doi: 10.1016/j.wneu.2018.12.177. [Epub ahead of print]

PMID:
30639481
13.

Prenatal imaging features suggestive of liver gestational allo immune disease.

Sciard C, Collardeau-Frachon S, Atallah A, Combourieu D, Massardier J, Heissat S, Gaucherand P, Guibaud L, Massoud M.

J Gynecol Obstet Hum Reprod. 2019 Jan;48(1):61-64. doi: 10.1016/j.jogoh.2018.11.005. Epub 2018 Nov 19.

PMID:
30465890
14.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, El Achkar CM, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ; DDD Study, Donadieu J, Narayanan V, Ramsey KM; C4RCD Research Group, Nava C, Rivière JB, Vitobello A, Mau-Them FT, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C.

Am J Hum Genet. 2018 Oct 4;103(4):631. doi: 10.1016/j.ajhg.2018.09.002. No abstract available.

15.

How to manage chickenpox during pregnancy: case reports.

Gaymard A, Pichon M, Bal A, Massoud M, Buenerd A, Massardier J, Combourieu D, Guibaud L, Gaucherand P, Lina B, Mekki Y, Morfin F, Bolze PA.

Ann Biol Clin (Paris). 2018 Dec 1;76(6):669-674. doi: 10.1684/abc.2018.1385.

PMID:
30257814
16.

The cerebellar "tilted telephone receiver sign" enables prenatal diagnosis of PHACES syndrome.

Leibovitz Z, Guibaud L, Garel C, Massoud M, Karl K, Malinger G, Haratz KK, Gindes L, Tamarkin M, Ben-Sira L, Lev D, Shalev J, Brasseur-Daudruy M, Contreras Gutierrez de Piñeres CA, Lerman-Sagie T.

Eur J Paediatr Neurol. 2018 Nov;22(6):900-909. doi: 10.1016/j.ejpn.2018.08.006. Epub 2018 Sep 1.

PMID:
30209013
17.

The many faces of prenatal imaging diagnosis of primitive aqueduct obstruction.

Rault E, Lacalm A, Massoud M, Massardier J, Di Rocco F, Gaucherand P, Guibaud L.

Eur J Paediatr Neurol. 2018 Nov;22(6):910-918. doi: 10.1016/j.ejpn.2018.07.015. Epub 2018 Aug 10.

PMID:
30174220
18.

De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.

Tran Mau-Them F, Guibaud L, Duplomb L, Keren B, Lindstrom K, Marey I, Mochel F, van den Boogaard MJ, Oegema R, Nava C, Masurel A, Jouan T, Jansen FE, Au M, Chen AH, Cho M, Duffourd Y, Lozier E, Konovalov F, Sharkov A, Korostelev S, Urteaga B, Dickson P, Vera M, Martínez-Agosto JA, Begemann A, Zweier M, Schmitt-Mechelke T, Rauch A, Philippe C, van Gassen K, Nelson S, Graham JM Jr, Friedman J, Faivre L, Lin HJ, Thauvin-Robinet C, Vitobello A.

Genet Med. 2019 Apr;21(4):1008-1014. doi: 10.1038/s41436-018-0143-0. Epub 2018 Aug 31.

PMID:
30166628
19.

Prenatal imaging of posterior fossa disorders. A review.

Massoud M, Guibaud L.

Eur J Paediatr Neurol. 2018 Nov;22(6):972-988. doi: 10.1016/j.ejpn.2018.07.007. Epub 2018 Aug 2. Review.

PMID:
30143392
20.

Treatment of voluminous and complicated superficial slow-flow vascular malformations with sirolimus (PERFORMUS): protocol for a multicenter phase 2 trial with a randomized observational-phase design.

Maruani A, Boccara O, Bessis D, Guibaud L, Vabres P, Mazereeuw-Hautier J, Barbarot S, Chiaverini C, Blaise S, Droitcourt C, Mallet S, Martin L, Lorette G, Woillard JB, Jonville-Bera AP, Rollin J, Gruel Y, Herbreteau D, Goga D, le Touze A, Leducq S, Gissot V, Morel B, Tavernier E, Giraudeau B; Groupe de Recherche de la Societé Française de Dermatologie Pédiatrique.

Trials. 2018 Jun 27;19(1):340. doi: 10.1186/s13063-018-2725-1.

21.

Targeted therapy in patients with PIK3CA-related overgrowth syndrome.

Venot Q, Blanc T, Rabia SH, Berteloot L, Ladraa S, Duong JP, Blanc E, Johnson SC, Hoguin C, Boccara O, Sarnacki S, Boddaert N, Pannier S, Martinez F, Magassa S, Yamaguchi J, Knebelmann B, Merville P, Grenier N, Joly D, Cormier-Daire V, Michot C, Bole-Feysot C, Picard A, Soupre V, Lyonnet S, Sadoine J, Slimani L, Chaussain C, Laroche-Raynaud C, Guibaud L, Broissand C, Amiel J, Legendre C, Terzi F, Canaud G.

Nature. 2018 Jun;558(7711):540-546. doi: 10.1038/s41586-018-0217-9. Epub 2018 Jun 13. Erratum in: Nature. 2019 Apr;568(7752):E6.

PMID:
29899452
22.

Embryonal tumor of posterior cerebral fossa: false-negative diagnosis by fetal MRI related to misinterpretation of decreased apparent diffusion coefficient.

Cabet S, Meyronet D, Fichez A, di Rocco F, Gauthier-Moulinier H, Guibaud L.

Ultrasound Obstet Gynecol. 2019 Apr;53(4):551-553. doi: 10.1002/uog.19095. No abstract available.

PMID:
29786163
23.

Propranolol pharmacokinetics in infants treated for Infantile Hemangiomas requiring systemic therapy: Modeling and dosing regimen recommendations.

Del Frari L, Léauté-Labrèze C, Guibaud L, Barbarot S, Lacour JP, Chaumont C, Delarue A, Voisard JJ, Brunner V.

Pharmacol Res Perspect. 2018 Apr 30;6(3):e00399. doi: 10.1002/prp2.399. eCollection 2018 Jun.

24.

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

Olson HE, Jean-Marçais N, Yang E, Heron D, Tatton-Brown K, van der Zwaag PA, Bijlsma EK, Krock BL, Backer E, Kamsteeg EJ, Sinnema M, Reijnders MRF, Bearden D, Begtrup A, Telegrafi A, Lunsing RJ, Burglen L, Lesca G, Cho MT, Smith LA, Sheidley BR, Moufawad El Achkar C, Pearl PL, Poduri A, Skraban CM, Tarpinian J, Nesbitt AI, Fransen van de Putte DE, Ruivenkamp CAL, Rump P, Chatron N, Sabatier I, De Bellescize J, Guibaud L, Sweetser DA, Waxler JL, Wierenga KJ; DDD Study, Donadieu J, Narayanan V, Ramsey KM; C4RCD Research Group, Nava C, Rivière JB, Vitobello A, Tran Mau-Them F, Philippe C, Bruel AL, Duffourd Y, Thomas L, Lelieveld SH, Schuurs-Hoeijmakers J, Brunner HG, Keren B, Thevenon J, Faivre L, Thomas G, Thauvin-Robinet C.

Am J Hum Genet. 2018 May 3;102(5):995-1007. doi: 10.1016/j.ajhg.2018.03.005. Epub 2018 Apr 12. Erratum in: Am J Hum Genet. 2018 Oct 4;103(4):631.

25.

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
26.

Fern-shaped patch as a hallmark of blue rubber bleb nevus syndrome in neonatal venous malformations.

Ivars M, Martin-Santiago A, Baselga E, Guibaud L, López-Gutiérrez JC.

Eur J Pediatr. 2018 Sep;177(9):1395-1398. doi: 10.1007/s00431-018-3126-x. Epub 2018 Mar 8.

PMID:
29520504
27.

Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly.

Bruel AL, Thevenon J, Huet F, Jean-Marcais N, Odent S, Dubourg C, Lehalle D, Tran Mau-Them F, Philippe C, Moutton S, Houcinat N, Gay S, Guibaud L, Duffourd Y, Rivière JB, Faivre L, Thauvin-Robinet C.

Clin Genet. 2018 Jul;94(1):182-184. doi: 10.1111/cge.13211. Epub 2018 Mar 2. No abstract available.

PMID:
29498412
28.

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.

Gueneau L, Fish RJ, Shamseldin HE, Voisin N, Tran Mau-Them F, Preiksaitiene E, Monroe GR, Lai A, Putoux A, Allias F, Ambusaidi Q, Ambrozaityte L, Cimbalistienė L, Delafontaine J, Guex N, Hashem M, Kurdi W, Jamuar SS, Ying LJ, Bonnard C, Pippucci T, Pradervand S, Roechert B, van Hasselt PM, Wiederkehr M, Wright CF; DDD Study, Xenarios I, van Haaften G, Shaw-Smith C, Schindewolf EM, Neerman-Arbez M, Sanlaville D, Lesca G, Guibaud L, Reversade B, Chelly J, Kučinskas V, Alkuraya FS, Reymond A.

Am J Hum Genet. 2018 Jan 4;102(1):116-132. doi: 10.1016/j.ajhg.2017.12.002. Epub 2017 Dec 28.

29.

Ultrasound examination of the antrum to predict gastric content volume in the third trimester of pregnancy as assessed by MRI: A prospective cohort study.

Roukhomovsky M, Zieleskiewicz L, Diaz A, Guibaud L, Chaumoitre K, Desgranges FP, Leone M, Chassard D, Bouvet L; AzuRea, CAR’Echo Collaborative Networks.

Eur J Anaesthesiol. 2018 May;35(5):379-389. doi: 10.1097/EJA.0000000000000749.

PMID:
29210844
30.

In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses.

Alby C, Boutaud L, Bonnière M, Collardeau-Frachon S, Guibaud L, Lopez E, Bruel AL, Aral B, Sonigo P, Roth P, Vibert-Guigue C, Castaigne V, Carbonne B, Joyé N, Faivre L, Cordier MP, Bernabe Gelot A, Clementi M, Mammi I, Vekemans M, Razavi F, Gonzales M, Thauvin-Robinet C, Attié-Bitach T.

Birth Defects Res. 2018 Mar 1;110(4):382-389. doi: 10.1002/bdr2.1154. Epub 2017 Nov 28.

PMID:
29193896
31.

Outcome of isolated agenesis of the corpus callosum: A population-based prospective study.

des Portes V, Rolland A, Velazquez-Dominguez J, Peyric E, Cordier MP, Gaucherand P, Massardier J, Massoud M, Curie A, Pellot AS, Rivier F, Lacalm A, Clément A, Ville D, Guibaud L.

Eur J Paediatr Neurol. 2018 Jan;22(1):82-92. doi: 10.1016/j.ejpn.2017.08.003. Epub 2017 Sep 5.

32.

Autopsy findings in EPG5-related Vici syndrome with antenatal onset.

Touraine R, Laquerrière A, Petcu CA, Marguet F, Byrne S, Mein R, Yau S, Mohammed S, Guibaud L, Gautel M, Jungbluth H.

Am J Med Genet A. 2017 Sep;173(9):2522-2527. doi: 10.1002/ajmg.a.38342. Epub 2017 Jul 27.

PMID:
28748650
33.

Fetal ventriculomegaly: diagnostic, ethical and semantic considerations.

Guibaud L, Lacalm A, Rault E.

Childs Nerv Syst. 2017 Nov;33(11):1863-1864. doi: 10.1007/s00381-017-3500-4. Epub 2017 Jul 10. No abstract available.

PMID:
28695341
34.

Prenatal diagnosis of cerebral and extracerebral high-flow lesions revealing familial capillary malformation-arteriovenous malformation (CM-AVM) syndrome.

Lacalm A, Fichez A, Broussin B, Abel C, Lacombe D, Guibaud L.

Ultrasound Obstet Gynecol. 2018 Mar;51(3):409-411. doi: 10.1002/uog.17460. No abstract available.

35.

Percutaneous cryotherapy for pain treatment of spindle cell hemangioendothelioma of the hand.

Beji H, Marec-Berard P, Guibaud L, Mavrovi E, Durous V, Pilleul F.

Diagn Interv Imaging. 2017 Jun;98(6):511-512. doi: 10.1016/j.diii.2016.12.006. Epub 2017 Feb 1. No abstract available.

36.

A novel disorder of sex development, characterized by progressive regression of testicular function and cystic leukoencephalopathy.

Rossi M, Vasiljevic A, Labalme A, Dijoud F, Mallet-Motak D, Petcu CA, Touraine R, Vianey-Saban C, Guibaud L, Edery P, Sanlaville D, Morel Y.

Am J Med Genet A. 2017 Mar;173(3):654-660. doi: 10.1002/ajmg.a.38093. Epub 2017 Feb 4.

PMID:
28160395
37.

Prenatal diagnosis of pericallosal curvilinear lipoma: specific imaging pattern and diagnostic pitfalls.

Atallah A, Lacalm A, Massoud M, Massardier J, Gaucherand P, Guibaud L.

Ultrasound Obstet Gynecol. 2018 Feb;51(2):269-273. doi: 10.1002/uog.17400. Epub 2018 Jan 5.

38.

Antenatal manifestations of inborn errors of metabolism: prenatal imaging findings.

Guibaud L, Collardeau-Frachon S, Lacalm A, Massoud M, Rossi M, Cordier MP, Vianey-Saban C.

J Inherit Metab Dis. 2017 Jan;40(1):103-112. doi: 10.1007/s10545-016-9992-3. Epub 2016 Nov 16. Review.

PMID:
27853988
39.

Expanding Porencephalic Cysts: Prenatal Imaging and Differential Diagnosis.

Abergel A, Lacalm A, Massoud M, Massardier J, des Portes V, Guibaud L.

Fetal Diagn Ther. 2017;41(3):226-233. doi: 10.1159/000447740. Epub 2016 Jul 14.

PMID:
27409647
40.

Antenatal manifestations of inborn errors of metabolism: biological diagnosis.

Vianey-Saban C, Acquaviva C, Cheillan D, Collardeau-Frachon S, Guibaud L, Pagan C, Pettazzoni M, Piraud M, Lamazière A, Froissart R.

J Inherit Metab Dis. 2016 Sep;39(5):611-624. doi: 10.1007/s10545-016-9947-8. Epub 2016 Jul 8. Review.

PMID:
27393412
41.

Kasabach-Merritt phenomenon and prenatal counseling: a case series.

Beissel A, Riou S, Fischer Fumeaux CJ, Cassart M, Blanc S, Claris O, Guibaud L.

Clin Case Rep. 2016 Jun 10;4(7):692-5. doi: 10.1002/ccr3.580. eCollection 2016 Jul.

42.

Antenatal manifestations of inborn errors of metabolism: autopsy findings suggestive of a metabolic disorder.

Collardeau-Frachon S, Cordier MP, Rossi M, Guibaud L, Vianey-Saban C.

J Inherit Metab Dis. 2016 Sep;39(5):597-610. doi: 10.1007/s10545-016-9937-x. Epub 2016 Apr 22. Review.

PMID:
27106218
43.

Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.

Putoux A, Alqahtani A, Pinson L, Paulussen AD, Michel J, Besson A, Mazoyer S, Borg I, Nampoothiri S, Vasiljevic A, Uwineza A, Boggio D, Champion F, de Die-Smulders CE, Gardeitchik T, van Putten WK, Perez MJ, Musizzano Y, Razavi F, Drunat S, Verloes A, Hennekam R, Guibaud L, Alix E, Sanlaville D, Lesca G, Edery P.

Clin Genet. 2016 Dec;90(6):550-555. doi: 10.1111/cge.12781. Epub 2016 Jun 2.

PMID:
27040866
44.

Diagnostic imaging tools to elucidate decreased cephalic biometry and fetal microcephaly: a systematic analysis of the central nervous system.

Guibaud L, Lacalm A.

Ultrasound Obstet Gynecol. 2016 Jul;48(1):16-25. doi: 10.1002/uog.15926. Review. No abstract available.

45.

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
46.

[Fetal transcerebellar diameter measured in screening ultrasound: Feasibility and reproducibility].

Sciard C, Lacalme A, Combourieu D, Gaucherand P, Lajeunesse C, Massardier J, Guibaud L, Massoud M.

J Gynecol Obstet Biol Reprod (Paris). 2016 May;45(5):516-20. doi: 10.1016/j.jgyn.2015.07.003. Epub 2015 Aug 29. French.

47.

Prenatal diagnosis of cobblestone lissencephaly associated with Walker-Warburg syndrome based on a specific sonographic pattern.

Lacalm A, Nadaud B, Massoud M, Putoux A, Gaucherand P, Guibaud L.

Ultrasound Obstet Gynecol. 2016 Jan;47(1):117-22. doi: 10.1002/uog.15735.

48.

[Head and neck superficial venous malformations].

Sigaux N, Viremouneix L, Guibaud L, Breton P.

Rev Stomatol Chir Maxillofac Chir Orale. 2015 Sep;116(4):201-8. doi: 10.1016/j.revsto.2015.07.002. Epub 2015 Aug 19. Review. French.

PMID:
26296277
49.

[Is alfa-interferon still current in the management of Kasabach-Merritt syndrome?].

Duclaux-Loras R, Lachaux A, Guibaud L, Bertrand Y.

Arch Pediatr. 2015 May;22(5):523-7. doi: 10.1016/j.arcped.2015.02.004. Epub 2015 Apr 6. French.

PMID:
25858451
50.

A randomized, controlled trial of oral propranolol in infantile hemangioma.

Léauté-Labrèze C, Hoeger P, Mazereeuw-Hautier J, Guibaud L, Baselga E, Posiunas G, Phillips RJ, Caceres H, Lopez Gutierrez JC, Ballona R, Friedlander SF, Powell J, Perek D, Metz B, Barbarot S, Maruani A, Szalai ZZ, Krol A, Boccara O, Foelster-Holst R, Febrer Bosch MI, Su J, Buckova H, Torrelo A, Cambazard F, Grantzow R, Wargon O, Wyrzykowski D, Roessler J, Bernabeu-Wittel J, Valencia AM, Przewratil P, Glick S, Pope E, Birchall N, Benjamin L, Mancini AJ, Vabres P, Souteyrand P, Frieden IJ, Berul CI, Mehta CR, Prey S, Boralevi F, Morgan CC, Heritier S, Delarue A, Voisard JJ.

N Engl J Med. 2015 Feb 19;372(8):735-46. doi: 10.1056/NEJMoa1404710.

Supplemental Content

Loading ...
Support Center