158 related articles for article (PubMed ID: 26188271)
21. Prenatal presentation in a patient with Baraitser-Winter cerebrofrontofacial syndrome and a novel ACTB variant.
Aiyar L; Stumbaugh T; Hirata GI; Chen B; Lau HL; Wallerstein RJ
Clin Dysmorphol; 2019 Jul; 28(3):164-166. PubMed ID: 30921093
[No Abstract] [Full Text] [Related]
22. Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B.
Saugier-Veber P; Marguet F; Vezain M; Bucourt M; Letard P; Delahaye A; Pipiras E; Frébourg T; Gonzalez B; Laquerrière A
Eur J Med Genet; 2020 Apr; 63(4):103814. PubMed ID: 31770597
[TBL] [Abstract][Full Text] [Related]
23. WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
Cavallin M; Rujano MA; Bednarek N; Medina-Cano D; Bernabe Gelot A; Drunat S; Maillard C; Garfa-Traore M; Bole C; Nitschké P; Beneteau C; Besnard T; Cogné B; Eveillard M; Kuster A; Poirier K; Verloes A; Martinovic J; Bidat L; Rio M; Lyonnet S; Reilly ML; Boddaert N; Jenneson-Liver M; Motte J; Doco-Fenzy M; Chelly J; Attie-Bitach T; Simons M; Cantagrel V; Passemard S; Baffet A; Thomas S; Bahi-Buisson N
Brain; 2017 Oct; 140(10):2597-2609. PubMed ID: 28969387
[TBL] [Abstract][Full Text] [Related]
24. Extreme microcephaly with agyria-pachygyria, partial agenesis of the corpus callosum, and pontocerebellar dysplasia.
Sztriha L; Johansen JG; Al-Gazali LI
J Child Neurol; 2005 Feb; 20(2):170-2. PubMed ID: 15794192
[TBL] [Abstract][Full Text] [Related]
25. Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation.
Takeuchi A; Okamoto N; Fujinaga S; Morita H; Shimizu J; Akiyama T; Ninomiya S; Takanashi J; Kubo T
Eur J Med Genet; 2015 Aug; 58(8):369-71. PubMed ID: 26096993
[TBL] [Abstract][Full Text] [Related]
26. Mowat-Wilson syndrome in a fetus with antenatal diagnosis of short corpus callosum: advocacy for standard autopsy.
Spaggiari E; Baumann C; Alison M; Oury JF; Belarbi N; Dupont C; Guimiot F; Delezoide AL
Eur J Med Genet; 2013 Jun; 56(6):297-300. PubMed ID: 23523603
[TBL] [Abstract][Full Text] [Related]
27. De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia.
Niemann JH; Du C; Morlot S; Schmidt G; Auber B; Kaune B; Göhring G; Ripperger T; Schlegelberger B; Hofmann W; Smol T; Ait-Yahya E; Raimbault A; Lambilliotte A; Petit F; Steinemann D
Clin Genet; 2020 Oct; 98(4):374-378. PubMed ID: 32627184
[TBL] [Abstract][Full Text] [Related]
28. De Novo
Dawidziuk M; Kutkowska-Kazmierczak A; Bukowska-Olech E; Jurek M; Kalka E; Guilbride DL; Furmanek MI; Bekiesinska-Figatowska M; Bal J; Gawlinski P
Int J Mol Sci; 2022 Jan; 23(2):. PubMed ID: 35054877
[TBL] [Abstract][Full Text] [Related]
29. Oligodontia, microcephaly and facial dysmorphia syndrome.
Stoll C; Dott B; Alembik Y
Genet Couns; 1998; 9(1):29-32. PubMed ID: 9555584
[TBL] [Abstract][Full Text] [Related]
30. TUBA1A Mutation Associated With Eye Abnormalities in Addition to Brain Malformation.
Myers KA; Bello-Espinosa LE; Kherani A; Wei XC; Innes AM
Pediatr Neurol; 2015 Nov; 53(5):442-4. PubMed ID: 26294046
[TBL] [Abstract][Full Text] [Related]
31. Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations.
Bhat V; Girimaji SC; Mohan G; Arvinda HR; Singhmar P; Duvvari MR; Kumar A
Clin Genet; 2011 Dec; 80(6):532-40. PubMed ID: 21496009
[TBL] [Abstract][Full Text] [Related]
32. A prenatal presentation of severe microcephaly and brain anomalies in a patient with novel compound heterozygous mutations in the STIL gene found postnatally with exome analysis.
Bennett H; Presti A; Adams D; Rios J; Benito C; Cohen D
Pediatr Neurol; 2014 Sep; 51(3):434-6. PubMed ID: 24986681
[TBL] [Abstract][Full Text] [Related]
33. Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?
Mégarbané A; Al-Ali R; Choucair N; Lek M; Wang E; Ladjimi M; Rose CM; Hobeika R; Macary Y; Temanni R; Jithesh PV; Chouchane A; Sastry KS; Thomas R; Tomei S; Liu W; Marincola FM; MacArthur D; Chouchane L
BMC Med Genet; 2016 Jun; 17(1):42. PubMed ID: 27282200
[TBL] [Abstract][Full Text] [Related]
34. Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum.
Dhamija R; Graham JM; Smaoui N; Thorland E; Kirmani S
Eur J Med Genet; 2014 Mar; 57(4):181-4. PubMed ID: 24583203
[TBL] [Abstract][Full Text] [Related]
35. De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.
Laquerriere A; Gonzales M; Saillour Y; Cavallin M; Joyē N; Quēlin C; Bidat L; Dommergues M; Plessis G; Encha-Razavi F; Chelly J; Bahi-Buisson N; Poirier K
Eur J Med Genet; 2016 Apr; 59(4):249-56. PubMed ID: 26732629
[TBL] [Abstract][Full Text] [Related]
36. Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Huang L; Vanstone MR; Hartley T; Osmond M; Barrowman N; Allanson J; Baker L; Dabir TA; Dipple KM; Dobyns WB; Estrella J; Faghfoury H; Favaro FP; Goel H; Gregersen PA; Gripp KW; Grix A; Guion-Almeida ML; Harr MH; Hudson C; Hunter AG; Johnson J; Joss SK; Kimball A; Kini U; Kline AD; Lauzon J; Lildballe DL; López-González V; Martinezmoles J; Meldrum C; Mirzaa GM; Morel CF; Morton JE; Pyle LC; Quintero-Rivera F; Richer J; Scheuerle AE; Schönewolf-Greulich B; Shears DJ; Silver J; Smith AC; Temple IK; ; van de Kamp JM; van Dijk FS; Vandersteen AM; White SM; Zackai EH; Zou R; ; Bulman DE; Boycott KM; Lines MA
Hum Mutat; 2016 Feb; 37(2):148-54. PubMed ID: 26507355
[TBL] [Abstract][Full Text] [Related]
37. Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly.
Fallet-Bianco C; Laquerrière A; Poirier K; Razavi F; Guimiot F; Dias P; Loeuillet L; Lascelles K; Beldjord C; Carion N; Toussaint A; Revencu N; Addor MC; Lhermitte B; Gonzales M; Martinovich J; Bessieres B; Marcy-Bonnière M; Jossic F; Marcorelles P; Loget P; Chelly J; Bahi-Buisson N
Acta Neuropathol Commun; 2014 Jul; 2():69. PubMed ID: 25059107
[TBL] [Abstract][Full Text] [Related]
38. Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and growth restriction.
Cavallin M; Bery A; Maillard C; Salomon LJ; Bole C; Reilly ML; Nitschké P; Boddaert N; Bahi-Buisson N
Eur J Med Genet; 2018 Dec; 61(12):755-758. PubMed ID: 30121372
[TBL] [Abstract][Full Text] [Related]
39. Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.
Lim BC; Yoo SK; Lee S; Shin JY; Hwang H; Chae JH; Hwang YS; Seo JS; Kim JI; Kim KJ
Gene; 2014 Aug; 546(2):425-9. PubMed ID: 24914498
[TBL] [Abstract][Full Text] [Related]
40. Mutational spectrum and clinical features of patients with ACTG1 mutations identified by massively parallel DNA sequencing.
Miyagawa M; Nishio SY; Ichinose A; Iwasaki S; Murata T; Kitajiri S; Usami S
Ann Otol Rhinol Laryngol; 2015 May; 124 Suppl 1():84S-93S. PubMed ID: 25792668
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]