238 related articles for article (PubMed ID: 27670155)
41. First and second branchial arch involvement in mandibulofacial dysostosis Guion-Almeida type.
Quinzi V; De Luca C; Giovannetti F; Splendiani A; Cocciadiferro D; Capolino R; Brancati F; Marzo G
Eur J Paediatr Dent; 2023 Dec; 24(4):334-336. PubMed ID: 38015115
[TBL] [Abstract][Full Text] [Related]
42. Two patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia.
Taniguchi-Ikeda M; Morisada N; Inagaki H; Ouchi Y; Takami Y; Tachikawa M; Satake W; Kobayashi K; Tsuneishi S; Takada S; Yamaguchi H; Nagase H; Nozu K; Okamoto N; Nishio H; Toda T; Morioka I; Wada H; Kurahashi H; Iijima K
Clin Genet; 2018 Apr; 93(4):931-933. PubMed ID: 29243230
[No Abstract] [Full Text] [Related]
43. Prenatal features of mandibulofacial dysostosis Guion-Almeida Type.
Dragoi V; Nedelea F; Gica N; Botezatu R; Peltecu G; Panaitescu AM
J Med Life; 2021; 14(5):722-725. PubMed ID: 35027977
[TBL] [Abstract][Full Text] [Related]
44. Disease modeling of core pre-mRNA splicing factor haploinsufficiency.
Wood KA; Rowlands CF; Qureshi WMS; Thomas HB; Buczek WA; Briggs TA; Hubbard SJ; Hentges KE; Newman WG; O'Keefe RT
Hum Mol Genet; 2019 Nov; 28(22):3704-3723. PubMed ID: 31304552
[TBL] [Abstract][Full Text] [Related]
45. Mandibulofacial dysostosis, microcephaly and thorax deformities in two brothers: a new recessive syndrome?
Delb W; Lipfert S; Henn W
Clin Dysmorphol; 2001 Apr; 10(2):105-9. PubMed ID: 11310989
[TBL] [Abstract][Full Text] [Related]
46. Novel Splice Site Pathogenic Variant of
Kim SY; Lee DH; Han JH; Choi BY
Diagnostics (Basel); 2020 May; 10(5):. PubMed ID: 32408545
[TBL] [Abstract][Full Text] [Related]
47. The ups and downs of data sharing in science.
Nature; 2016 Jun; 534(7608):435-6. PubMed ID: 27337301
[No Abstract] [Full Text] [Related]
48. Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53.
Beauchamp MC; Djedid A; Bareke E; Merkuri F; Aber R; Tam AS; Lines MA; Boycott KM; Stirling PC; Fish JL; Majewski J; Jerome-Majewska LA
Hum Mol Genet; 2021 May; 30(9):739-757. PubMed ID: 33601405
[TBL] [Abstract][Full Text] [Related]
49. Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.
Aran A; Rosenfeld N; Jaron R; Renbaum P; Zuckerman S; Fridman H; Zeligson S; Segel R; Kohn Y; Kamal L; Kanaan M; Segev Y; Mazaki E; Rabinowitz R; Shen O; Lee M; Walsh T; King MC; Gulsuner S; Levy-Lahad E
Neurology; 2016 May; 86(21):2016-24. PubMed ID: 27164683
[TBL] [Abstract][Full Text] [Related]
50. Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations.
Passemard S; Titomanlio L; Elmaleh M; Afenjar A; Alessandri JL; Andria G; de Villemeur TB; Boespflug-Tanguy O; Burglen L; Del Giudice E; Guimiot F; Hyon C; Isidor B; Mégarbané A; Moog U; Odent S; Hernandez K; Pouvreau N; Scala I; Schaer M; Gressens P; Gerard B; Verloes A
Neurology; 2009 Sep; 73(12):962-9. PubMed ID: 19770472
[TBL] [Abstract][Full Text] [Related]
51. Fetal brain disruption sequence versus fetal brain arrest: A distinct autosomal recessive developmental brain malformation phenotype.
Abdel-Salam GM; Abdel-Hamid MS; El-Khayat HA; Eid OM; Saba S; Farag MK; Saleem SN; Gaber KR
Am J Med Genet A; 2015 May; 167A(5):1089-99. PubMed ID: 25755095
[TBL] [Abstract][Full Text] [Related]
52. A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature.
Zombor M; Kalmár T; Nagy N; Berényi M; Telcs B; Maróti Z; Brandau O; Sztriha L
J Appl Genet; 2019 May; 60(2):151-162. PubMed ID: 30706430
[TBL] [Abstract][Full Text] [Related]
53. 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]
54. Mandibulofacial dysostosis in a patient with a de novo 2;17 translocation that disrupts the HOXD gene cluster.
Stevenson DA; Bleyl SB; Maxwell T; Brothman AR; South ST
Am J Med Genet A; 2007 May; 143A(10):1053-9. PubMed ID: 17431905
[TBL] [Abstract][Full Text] [Related]
55. Branchial arch syndromes.
Alfi D; Lam D; Gateno J
Atlas Oral Maxillofac Surg Clin North Am; 2014 Sep; 22(2):167-73. PubMed ID: 25171997
[No Abstract] [Full Text] [Related]
56. Mild mandibulofacial dysostosis in a child with a deletion of 3p.
Arn PH; Mankinen C; Jabs EW
Am J Med Genet; 1993 Jun; 46(5):534-6. PubMed ID: 8322816
[TBL] [Abstract][Full Text] [Related]
57. Pyrroline-5-Carboxylate Reductase 2 Deficiency: A New Case and Review of the Literature.
Afroze B; Mercimek-Andrews S
Can J Neurol Sci; 2020 Mar; 47(2):280-282. PubMed ID: 31918782
[No Abstract] [Full Text] [Related]
58. An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU.
Shimada S; Oguni H; Otani Y; Nishikawa A; Ito S; Eto K; Nakazawa T; Yamamoto-Shimojima K; Takanashi JI; Nagata S; Yamamoto T
Brain Dev; 2018 Oct; 40(9):813-818. PubMed ID: 29858110
[TBL] [Abstract][Full Text] [Related]
59. Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss.
Nakashima M; Takano K; Osaka H; Aida N; Tsurusaki Y; Miyake N; Saitsu H; Matsumoto N
J Hum Genet; 2014 Aug; 59(8):471-4. PubMed ID: 24965255
[TBL] [Abstract][Full Text] [Related]
60. 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. PubMed ID: 23188108
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
