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Items: 1 to 20 of 1010

1.

Unraveling the etiological complexity of autism spectrum disorders.

Munnich A.

Dev Med Child Neurol. 2020 Apr;62(4):404. doi: 10.1111/dmcn.14455. No abstract available.

2.

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.

Juven A, Nambot S, Piton A, Jean-Marçais N, Masurel A, Callier P, Marle N, Mosca-Boidron AL, Kuentz P, Philippe C, Chevarin M, Duffourd Y, Gautier E, Munnich A, Rio M, Rondeau S, El Chehadeh S, Schaefer É, Gérard B, Bouquillon S, Delorme CV, Francannet C, Laffargue F, Gouas L, Isidor B, Vincent M, Blesson S, Giuliano F, Pichon O, Le Caignec C, Journel H, Perrin-Sabourin L, Fabre-Teste J, Martin D, Vieville G, Dieterich K, Lacombe D, Denommé-Pichon AS, Thauvin-Robinet C, Faivre L.

Eur J Hum Genet. 2020 Feb 18. doi: 10.1038/s41431-020-0582-3. [Epub ahead of print]

PMID:
32071410
3.

[Twenty years of on-site clinical genetics consultations for people with ASD].

Munnich A, Demily C, Frugère L, Duwime C, Malan V, Barcia G, Vidal C, Throo É, Besmond C, Hubert L, Roland-Manuel G, Malen JP, Ferreri M, Hanein S, Boddaert N, Assouline M.

Med Sci (Paris). 2019 Nov;35(11):843-851. doi: 10.1051/medsci/2019170. Epub 2019 Dec 17. French.

PMID:
31845875
4.

Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy.

Barcia G, Assouline Z, Pennisi A, Gitiaux C, Schiff M, Boddaert N, Munnich A, Bonnefont JP, Rötig A.

Mol Genet Metab Rep. 2019 Nov 6;21:100528. doi: 10.1016/j.ymgmr.2019.100528. eCollection 2019 Dec. No abstract available.

5.

Mitochondrial myopathy plus due to the variant m.586G > A in MT-TF.

Barcia G, Assouline Z, Pennisi A, Steffann J, Boddaert N, Gitiaux C, Rötig A, Bonnefont JP, Munnich A.

Mol Genet Metab Rep. 2019 Oct 23;21:100522. doi: 10.1016/j.ymgmr.2019.100522. eCollection 2019 Dec. No abstract available.

6.

Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.

Barcia G, Rio M, Assouline Z, Zangarelli C, Gueguen N, Dumas VD, Marcorelles P, Schiff M, Slama A, Barth M, Hully M, de Lonlay P, Munnich A, Desguerre I, Bonnefont JP, Steffann J, Procaccio V, Boddaert N, Rötig A, Metodiev MD, Ruzzenente B.

Hum Mutat. 2019 Nov 3. doi: 10.1002/humu.23937. [Epub ahead of print]

PMID:
31680380
7.

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

Bar C, Barcia G, Jennesson M, Le Guyader G, Schneider A, Mignot C, Lesca G, Breuillard D, Montomoli M, Keren B, Doummar D, Billette de Villemeur T, Afenjar A, Marey I, Gerard M, Isnard H, Poisson A, Dupont S, Berquin P, Meyer P, Genevieve D, De Saint Martin A, El Chehadeh S, Chelly J, Guët A, Scalais E, Dorison N, Myers CT, Mefford HC, Howell KB, Marini C, Freeman JL, Nica A, Terrone G, Sekhara T, Lebre AS, Odent S, Sadleir LG, Munnich A, Guerrini R, Scheffer IE, Kabashi E, Nabbout R.

Hum Mutat. 2020 Jan;41(1):69-80. doi: 10.1002/humu.23915. Epub 2019 Oct 4.

PMID:
31513310
8.

The Karabo distributed control system.

Hauf S, Heisen B, Aplin S, Beg M, Bergemann M, Bondar V, Boukhelef D, Danilevsky C, Ehsan W, Essenov S, Fabbri R, Flucke G, Fulla Marsa D, Göries D, Giovanetti G, Hickin D, Jarosiewicz T, Kamil E, Khakhulin D, Klimovskaia A, Kluyver T, Kirienko Y, Kuhn M, Maia L, Mamchyk D, Mariani V, Mekinda L, Michelat T, Münnich A, Padee A, Parenti A, Santos H, Silenzi A, Teichmann M, Weger K, Wiggins J, Wrona K, Xu C, Youngman C, Zhu J, Fangohr H, Brockhauser S.

J Synchrotron Radiat. 2019 Sep 1;26(Pt 5):1448-1461. doi: 10.1107/S1600577519006696. Epub 2019 Aug 9.

PMID:
31490132
9.

Expanding the clinical spectrum of MTTF mutations.

Barcia G, Assouline Z, Pennisi A, Steffann J, Boddaert N, Gitiaux C, Rötig A, Bonnefont JP, Munnich A.

Mol Genet Metab Rep. 2019 Aug 13;21:100501. doi: 10.1016/j.ymgmr.2019.100501. eCollection 2019 Dec.

10.

De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures.

Hubert L, Cannata Serio M, Villoing-Gaudé L, Boddaert N, Kaminska A, Rio M, Lyonnet S, Munnich A, Poirier K, Simons M, Besmond C.

J Med Genet. 2020 Feb;57(2):138-144. doi: 10.1136/jmedgenet-2018-105927. Epub 2019 Aug 22.

PMID:
31439720
11.

Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.

Munnich A, Demily C, Frugère L, Duwime C, Malan V, Barcia G, Vidal C, Throo E, Besmond C, Hubert L, Roland-Manuel G, Malen JP, Ferreri M, Hanein S, Thalabard JC, Boddaert N, Assouline M.

Mol Autism. 2019 Aug 7;10:33. doi: 10.1186/s13229-019-0284-2. eCollection 2019.

12.

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. 2020 Jan;22(1):181-188. doi: 10.1038/s41436-019-0623-x. Epub 2019 Jul 31.

PMID:
31363182
13.

Searching for secondary findings: considering actionability and preserving the right not to know.

Isidor B, Julia S, Saugier-Veber P, Weil-Dubuc PL, Bézieau S, Bieth E, Bonnefont JP, Munnich A, Bourdeaut F, Bourgain C, Chassaing N, Corradini N, Haye D, Plaisancie J, Dupin-Deguine D, Calvas P, Mignot C, Cogné B, Manouvrier S, Pasquier L, Héron D, Boycott KM, Turrini M, Vears DF, Nizon M, Vincent M.

Eur J Hum Genet. 2019 Oct;27(10):1481-1484. doi: 10.1038/s41431-019-0438-x. Epub 2019 Jun 11. Review. No abstract available.

PMID:
31186543
14.

Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.

Maljevic S, Keren B, Aung YH, Forster IC, Mignot C, Buratti J, Lafitte A, Freihuber C, Rodan LH, Bergin A, Hubert L, Poirier K, Munnich A, Besmond C, Hauser N, Miller R, McWalter K, Nabbout R, Héron D, Leguern E, Depienne C, Petrou S, Nava C.

Brain. 2019 May 1;142(5):e15. doi: 10.1093/brain/awz079. No abstract available.

PMID:
31032849
15.

MHz data collection of a microcrystalline mixture of different jack bean proteins.

Grünbein ML, Bielecki J, Gorel A, Stricker M, Bean R, Cammarata M, Dörner K, Fröhlich L, Hartmann E, Hauf S, Hilpert M, Kim Y, Kloos M, Letrun R, Messerschmidt M, Mills G, Nass Kovacs G, Ramilli M, Roome CM, Sato T, Scholz M, Sliwa M, Sztuk-Dambietz J, Weik M, Weinhausen B, Al-Qudami N, Boukhelef D, Brockhauser S, Ehsan W, Emons M, Esenov S, Fangohr H, Kaukher A, Kluyver T, Lederer M, Maia L, Manetti M, Michelat T, Münnich A, Pallas F, Palmer G, Previtali G, Raab N, Silenzi A, Szuba J, Venkatesan S, Wrona K, Zhu J, Doak RB, Shoeman RL, Foucar L, Colletier JP, Mancuso AP, Barends TRM, Stan CA, Schlichting I.

Sci Data. 2019 Apr 3;6(1):18. doi: 10.1038/s41597-019-0010-0.

16.

Corpus callosum metrics predict severity of visuospatial and neuromotor dysfunctions in ARID1B mutations with Coffin-Siris syndrome.

Demily C, Duwime C, Lopez C, Hemimou C, Poisson A, Plasse J, Robert MP, Dénier C, Rossi M, Franck N, Besmond C, Barcia G, Boddaert N, Munnich A, Vaivre-Douret L.

Psychiatr Genet. 2019 Dec;29(6):237-242. doi: 10.1097/YPG.0000000000000225.

PMID:
30933046
17.

Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.

Russell BE, Whaley KG, Bove KE, Labilloy A, Lombardo RC, Hopkin RJ, Leslie ND, Prada C, Assouline Z, Barcia G, Bouchereau J, Chomton M, Debray D, Dorboz I, Durand P, Gaignard P, Habes D, Jardel C, Labarthe F, Lévy J, Lombès A, Mehler-Jacob C, Melki J, Menvielle L, Munnich A, Mussini C, Pichard S, Rio M, Rötig A, Sissaoui S, Slama A, Miethke AG, Schiff M.

Hepatology. 2019 Sep;70(3):1066-1070. doi: 10.1002/hep.30627. Epub 2019 May 16. No abstract available.

PMID:
30912852
18.

Author Correction: 22q13 deletion syndrome: communication disorder or autism? Evidence from a specific clinical and neurophysiological phenotype.

Ponson L, Gomot M, Blanc R, Barthelemy C, Roux S, Munnich A, Romana S, Aguillon-Hernandez N, Malan V, Bonnet-Brilhault F.

Transl Psychiatry. 2019 Feb 28;9(1):101. doi: 10.1038/s41398-019-0435-4.

19.

Prenatal diagnosis of fragile X syndrome: Small meiotic recombination events at the FMR1 locus.

Bacrot S, Monnot S, Haddad G, Barcia G, Rachid M, Boisson M, Pasquier N, Rondeau S, Munnich A, Steffann J, Bonnefont JP, Raynaud M.

Prenat Diagn. 2019 Apr;39(5):388-393. doi: 10.1002/pd.5439. Epub 2019 Apr 1.

PMID:
30779209
20.

Authors' reply re: Increased incidence of obstetric complications in women carrying mitochondrial DNA mutations: a retrospective cohort study in a single tertiary centre.

Kuleva M, Ben Miled S, Steffann J, Rondeau S, Ville Y, Munnich A, Salomon LJ.

BJOG. 2019 Oct;126(11):1401. doi: 10.1111/1471-0528.15609. Epub 2019 Feb 17. No abstract available.

PMID:
30773788

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