190 related articles for article (PubMed ID: 22628242)
1. Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion.
Guion-Almeida ML; Richieri-Costa A; Jehee FS; Passos-Bueno MR; Zechi-Ceide RM
Am J Med Genet A; 2012 Jul; 158A(7):1676-9. PubMed ID: 22628242
[TBL] [Abstract][Full Text] [Related]
2. Exclusion of mutations in TGIF, ALX3, and ALX4 genes in patients with the syndrome of frontonasal dysgenesis, callosal agenesis, basal encephalocele, and eye anomalies.
Ribeiro-Bicudo LA; Quiezi RG; Guion-Almeida ML; Legnaro C; Richieri-Costa A
Am J Med Genet A; 2012 May; 158A(5):1233-5. PubMed ID: 22496059
[No Abstract] [Full Text] [Related]
3. Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.
Lehalle D; Altunoglu U; Bruel AL; Arnaud E; Blanchet P; Choi JW; Désir J; Kiliç E; Lederer D; Pinson L; Thauvin-Robinet C; Singer A; Thevenon J; Callier P; Kayserili H; Faivre L
Am J Med Genet A; 2017 Dec; 173(12):3136-3142. PubMed ID: 29136349
[TBL] [Abstract][Full Text] [Related]
4. Schizencephaly accompanied by occipital encephalocele and deletion of chromosome 22q13.32: a case report.
Inan C; Sayin NC; Gurkan H; Atli E; Gursoy Erzincan S; Uzun I; Sutcu H; Dogan S; Ikbal Atli E; Varol F
Fetal Pediatr Pathol; 2019 Dec; 38(6):496-502. PubMed ID: 31130048
[No Abstract] [Full Text] [Related]
5. 1.9 Mb microdeletion of 21q22.11 within Braddock-Carey contiguous gene deletion syndrome region: dissecting the phenotype.
Izumi K; Brooks SS; Feret HA; Zackai EH
Am J Med Genet A; 2012 Jul; 158A(7):1535-41. PubMed ID: 22614953
[TBL] [Abstract][Full Text] [Related]
6. An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.
Rao A; O'Donnell S; Bain N; Meldrum C; Shorter D; Goel H
Eur J Med Genet; 2014 Feb; 57(2-3):65-70. PubMed ID: 24462883
[TBL] [Abstract][Full Text] [Related]
7. Braddock-Carey syndrome: A 21q22 contiguous gene syndrome encompassing RUNX1.
Braddock SR; South ST; Schiffman JD; Longhurst M; Rowe LR; Carey JC
Am J Med Genet A; 2016 Oct; 170(10):2580-6. PubMed ID: 27549381
[TBL] [Abstract][Full Text] [Related]
8. Chromosome 1p32-p31 deletion syndrome: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes and association with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia, and intrauterine growth restriction.
Chen CP; Su YN; Chen YY; Chern SR; Liu YP; Wu PC; Lee CC; Chen YT; Wang W
Taiwan J Obstet Gynecol; 2011 Sep; 50(3):345-52. PubMed ID: 22030051
[TBL] [Abstract][Full Text] [Related]
9. A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome.
Carrascosa-Romero MC; Suela J; Pardal-Fernández JM; Bermejo-Sánchez E; Vidal-Company A; MacDonald A; Tébar-Gil R; Martínez-Fernández ML; Martínez-Frías ML
Am J Med Genet A; 2013 Sep; 161A(9):2281-90. PubMed ID: 23894067
[TBL] [Abstract][Full Text] [Related]
10. Neurological picture. Bitemporal hemianopsia in frontonasal dysplasia, callosal agenesis, basal meningocele and eye abnormalities.
Huiskes F; Koen V; de Beer F
J Neurol Neurosurg Psychiatry; 2013 Aug; 84(8):915-7. PubMed ID: 23475785
[No Abstract] [Full Text] [Related]
11. Haploinsufficiency of ZNF238 is associated with corpus callosum abnormalities in 1q44 deletions.
Perlman SJ; Kulkarni S; Manwaring L; Shinawi M
Am J Med Genet A; 2013 Apr; 161A(4):711-6. PubMed ID: 23494996
[TBL] [Abstract][Full Text] [Related]
12. Prenatal diagnosis of microdeletion 16p13.11 combination with partial monosomy of 2q37.1-qter and partial trisomy of 7p15.3-pter in a fetus with bilateral ventriculomegaly, agenesis of corpus callosum, and polydactyly.
Sung PL; Chang CM; Chen CY; Wang PH; Chao KC; Wen KC; Cheng YY; Li YC; Lin CC
Taiwan J Obstet Gynecol; 2012 Jun; 51(2):260-5. PubMed ID: 22795105
[TBL] [Abstract][Full Text] [Related]
13. Partial trisomy due to a de novo duplication 22q11.1-22q13.1: a cat-eye syndrome variant with brain anomalies.
Karcaaltincaba D; Ceylaner S; Ceylaner G; Dalkilic S; Karli-Oguz K; Kandemir O
Genet Couns; 2010; 21(1):19-24. PubMed ID: 20420025
[TBL] [Abstract][Full Text] [Related]
14. A de novo 163 kb interstitial 1q44 microdeletion in a boy with thin corpus callosum, psychomotor delay and seizures.
Selmer KK; Bryne E; Rødningen OK; Fannemel M
Eur J Med Genet; 2012 Dec; 55(12):715-8. PubMed ID: 22975012
[TBL] [Abstract][Full Text] [Related]
15. Holoprosencephaly, orofacial cleft, and frontonaso-orbital encephaloceles: Genetic evaluation of a possible new syndrome.
Richieri-Costa A; Zechi-Ceide RM; Candido-Souza RM; Monteiro RAC; Tonello C; de Freitas ML; Kokitsu-Nakata NM; Vendramini-Pittoli S; Mazzeu JF; Overes M; Ali-Amin R; van Slegtenhorst M; Hoefsloot LH; Jehee FS
Am J Med Genet A; 2019 Nov; 179(11):2170-2177. PubMed ID: 31353810
[TBL] [Abstract][Full Text] [Related]
16. Genomic findings in patients with clinical suspicion of 22q11.2 deletion syndrome.
Koczkowska M; Wierzba J; Śmigiel R; Sąsiadek M; Cabała M; Ślężak R; Iliszko M; Kardaś I; Limon J; Lipska-Ziętkiewicz BS
J Appl Genet; 2017 Feb; 58(1):93-98. PubMed ID: 27629806
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Interstitial deletion 1q42 in a patient with agenesis of corpus callosum: Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome.
Filges I; Röthlisberger B; Boesch N; Weber P; Wenzel F; Huber AR; Heinimann K; Miny P
Am J Med Genet A; 2010 Apr; 152A(4):987-93. PubMed ID: 20358614
[TBL] [Abstract][Full Text] [Related]
19. 47 XYY and morning glory syndrome--a unique association.
Chew FL; Visvaraja S
J AAPOS; 2009 Aug; 13(4):406-7. PubMed ID: 19487143
[TBL] [Abstract][Full Text] [Related]
20. Neonatal detection of 5p13.2 duplication and delineation of the phenotype.
Carrascosa Romero MC; García Hoyo R; Calvente M; Baquero Cano M; González Castillo L; Suela J
Am J Med Genet A; 2012 Apr; 158A(4):877-81. PubMed ID: 22407779
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
