153 related articles for article (PubMed ID: 15216407)
1. Interstitial deletion of chromosome 14q in a Taiwanese infant with microcephaly.
Su PH; Chen SJ; Lee IC; Wang KL; Chen JY; Hung HM; Lee CF
J Formos Med Assoc; 2004 May; 103(5):385-7. PubMed ID: 15216407
[TBL] [Abstract][Full Text] [Related]
2. A 2.0 Mb microdeletion in proximal chromosome 14q12, involving regulatory elements of FOXG1, with the coding region of FOXG1 being unaffected, results in severe developmental delay, microcephaly, and hypoplasia of the corpus callosum.
Takagi M; Sasaki G; Mitsui T; Honda M; Tanaka Y; Hasegawa T
Eur J Med Genet; 2013 Sep; 56(9):526-8. PubMed ID: 23895774
[TBL] [Abstract][Full Text] [Related]
3. Abnormal myelination in a patient with deletion 14q11.2q13.1.
Ramelli GP; Remonda L; Lövblad KO; Hirsiger H; Moser H
Pediatr Neurol; 2000 Aug; 23(2):170-2. PubMed ID: 11020645
[TBL] [Abstract][Full Text] [Related]
4. A 24-Mb deletion in 14q in a girl with corpus callosum hypoplasia.
Ouertani I; Chaabouni M; Turki I; Lelorc'h M; Attié-Bitach T; Ben Jemaa L; Khouja-Gouider N; Chaabouni H
Eur J Med Genet; 2009; 52(4):256-9. PubMed ID: 19450439
[TBL] [Abstract][Full Text] [Related]
5. Molecular characterisation of a 3.5 Mb interstitial 14q deletion in a child with several phenotypic anomalies.
Petek E; Plecko-Startinig B; Windpassinger C; Egger H; Wagner K; Kroisel PM
J Med Genet; 2003 Apr; 40(4):e47. PubMed ID: 12676920
[No Abstract] [Full Text] [Related]
6. Ophthalmic and systemic findings in interstitial deletions of chromosome 14q: a case report and literature review.
Pearce ZD; Droste PJ; Aaberg TM; Hassan AS
Ophthalmic Genet; 2012 Sep; 33(3):161-6. PubMed ID: 22486322
[TBL] [Abstract][Full Text] [Related]
7. The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.
Torgyekes E; Shanske AL; Anyane-Yeboa K; Nahum O; Pirzadeh S; Blumfield E; Jobanputra V; Warburton D; Levy B
Am J Med Genet A; 2011 Aug; 155A(8):1884-96. PubMed ID: 21744488
[TBL] [Abstract][Full Text] [Related]
8. A 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesis.
Andrieux J; Cuvellier JC; Duban-Bedu B; Joriot-Chekaf S; Dieux-Coeslier A; Manouvrier-Hanu S; Delobel B; Vallee L
Eur J Med Genet; 2008; 51(1):87-91. PubMed ID: 18053786
[TBL] [Abstract][Full Text] [Related]
9. A 14q distal chromoanagenesis elucidated by whole genome sequencing.
Ader F; Heide S; Marzin P; Afenjar A; Diguet F; Chantot Bastaraud S; Rollat-Farnier PA; Sanlaville D; Portnoï MF; Siffroi JP; Schluth-Bolard C
Eur J Med Genet; 2020 Apr; 63(4):103776. PubMed ID: 31562959
[TBL] [Abstract][Full Text] [Related]
10. De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings.
Schuffenhauer S; Leifheit HJ; Lichtner P; Peters H; Murken J; Emmerich P
J Med Genet; 1999 Mar; 36(3):233-6. PubMed ID: 10204852
[TBL] [Abstract][Full Text] [Related]
11. Novel proximal 14q deletion: clinical and diffusion tensor imaging tractography findings in a patient with lissencephaly, agenesis of the corpus callosum, and septo-optic dysplasia.
Bravo EK; White ML; Olney AH; McAllister JL; Zhang YD
AJNR Am J Neuroradiol; 2012 Feb; 33(2):E16-8. PubMed ID: 22194387
[TBL] [Abstract][Full Text] [Related]
12. Subtelomeric deletions of 1q43q44 and severe brain impairment associated with delayed myelination.
Shimojima K; Okamoto N; Suzuki Y; Saito M; Mori M; Yamagata T; Momoi MY; Hattori H; Okano Y; Hisata K; Okumura A; Yamamoto T
J Hum Genet; 2012 Sep; 57(9):593-600. PubMed ID: 22718018
[TBL] [Abstract][Full Text] [Related]
13. Prenatal diagnosis of de novo proximal interstitial deletion of 14q associated with cebocephaly.
Chen CP; Lee CC; Chen LF; Chuang CY; Jan SW; Chen BF
J Med Genet; 1997 Sep; 34(9):777-8. PubMed ID: 9321769
[TBL] [Abstract][Full Text] [Related]
14. Concurrence of inv(7)(q11.2q32) and del(8)(p23.1) in a girl with congenital microcephaly, hypotonia, developmental delay, strabismus, hypernatremia, hypermagnesemia and deafness.
Mahjoubi F; Nasiri F; Razazian F
Genet Couns; 2012; 23(3):397-404. PubMed ID: 23072189
[TBL] [Abstract][Full Text] [Related]
15. Corpus callosum agenesis, multiple cysts, skin defects, and subtle ocular abnormalities with a de novo mutation [45,XX,der(5), t(5;;14) (pter;q11.2)].
Zannolli R; Mostardini R; Pucci L; Sorrentino L; Biagioli M; Perotti R; Guarna M; Hadjistilianou T; Zerega G; Pierluigi M; Franco B; D'Ambrosio A; Morgese G
Am J Med Genet; 2001 Jul; 102(1):29-35. PubMed ID: 11471169
[TBL] [Abstract][Full Text] [Related]
16. [7p-deletion syndrome].
Hinkel GK; Tolkendorf E; Bergan J
Monatsschr Kinderheilkd; 1988 Dec; 136(12):824-7. PubMed ID: 3237228
[TBL] [Abstract][Full Text] [Related]
17. Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly.
Shoichet SA; Kunde SA; Viertel P; Schell-Apacik C; von Voss H; Tommerup N; Ropers HH; Kalscheuer VM
Hum Genet; 2005 Oct; 117(6):536-44. PubMed ID: 16133170
[TBL] [Abstract][Full Text] [Related]
18. Leucodysplasia, microcephaly, cerebral malformation (LMC): a novel recessive disorder linked to 2p16.
Chandler KE; Del Rio A; Rakshi K; Springell K; Williams DK; Stoodley N; Woods CG; Pilz DT
Brain; 2006 Jan; 129(Pt 1):272-7. PubMed ID: 16272165
[TBL] [Abstract][Full Text] [Related]
19. A 6Mb deletion in band 2q22 due to a complex chromosome rearrangement associated with severe psychomotor retardation, microcephaly and distinctive dysmorphic facial features.
Hoffer MJ; Hilhorst-Hofstee Y; Knijnenburg J; Hansson KB; Engelberts AC; Laan LA; Bakker E; Rosenberg C
Eur J Med Genet; 2007; 50(2):149-54. PubMed ID: 17223398
[TBL] [Abstract][Full Text] [Related]
20. A case of de novo interstitial deletion of chromosome 5(q33q34).
Giltay JC; Gerssen-Schoorl KB; Luitse GH; Dauwerse HG
Clin Genet; 1997 Sep; 52(3):173-6. PubMed ID: 9377807
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
