138 related articles for article (PubMed ID: 22043488)
1. MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome.
Zung A; Petek E; Ben-Zeev B; Schwarzbraun T; Ben-Yehoshua SJ
Am J Med Genet A; 2011 Oct; 155A(10):2469-72. PubMed ID: 22043488
[TBL] [Abstract][Full Text] [Related]
2. Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review.
Kozma K; Bembea M; Jurca CM; Ioana M; Streață I; Şoşoi SŞ; Pirvu A; Petchesi CD; Szilágyi A; Sava CN; Jurca A; Ujfalusi A; Szűcs Z; Szakszon K
Genes (Basel); 2021 Oct; 12(11):. PubMed ID: 34828280
[TBL] [Abstract][Full Text] [Related]
3. Greig cephalopolysyndactyly (GCPS) contiguous gene syndrome in a boy with a 14 Mb deletion in region 7p13-14 caused by a paternal balanced insertion (5; 7).
Schulz S; Volleth M; Muschke P; Wieland I; Wieacker P
Appl Clin Genet; 2008; 1():19-22. PubMed ID: 23776344
[TBL] [Abstract][Full Text] [Related]
4. Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome.
Johnston JJ; Olivos-Glander I; Turner J; Aleck K; Bird LM; Mehta L; Schimke RN; Heilstedt H; Spence JE; Blancato J; Biesecker LG
Am J Med Genet A; 2003 Dec; 123A(3):236-42. PubMed ID: 14608643
[TBL] [Abstract][Full Text] [Related]
5. Human Malformation Syndromes of Defective GLI: Opposite Phenotypes of 2q14.2 (GLI2) and 7p14.2 (GLI3) Microdeletions and a GLIA/R Balance Model.
Niida Y; Inoue M; Ozaki M; Takase E
Cytogenet Genome Res; 2017; 153(2):56-65. PubMed ID: 29298444
[TBL] [Abstract][Full Text] [Related]
6. Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS).
Schwarzbraun T; Windpassinger C; Ofner L; Vincent JB; Cheung J; Scherer SW; Wagner K; Kroisel PM; Petek E
Eur J Med Genet; 2006; 49(4):338-45. PubMed ID: 16829355
[TBL] [Abstract][Full Text] [Related]
7. [7p14.1 microdeletion and Greig cephalopolysyndactyly syndrome].
Montoro Cremades D; Manchón Trives I; Botella López V; Alcaraz Más L; García Martínez MR; Galán Sánchez F
An Pediatr (Barc); 2011 Apr; 74(4):266-9. PubMed ID: 21296629
[TBL] [Abstract][Full Text] [Related]
8. A novel syndrome of cerebral cavernous malformation and Greig cephalopolysyndactyly. Laboratory investigation.
Bilguvar K; Bydon M; Bayrakli F; Ercan-Sencicek AG; Bayri Y; Mason C; DiLuna ML; Seashore M; Bronen R; Lifton RP; State M; Gunel M
J Neurosurg; 2007 Dec; 107(6 Suppl):495-9. PubMed ID: 18154020
[TBL] [Abstract][Full Text] [Related]
9. Phenotype of five patients with Greig syndrome and microdeletion of 7p13.
Kroisel PM; Petek E; Wagner K
Am J Med Genet; 2001 Aug; 102(3):243-9. PubMed ID: 11484201
[TBL] [Abstract][Full Text] [Related]
10. Dysmorphic Features, Frontal Cerebral Cavernoma, and Hyperglycemia in a Girl with a De Novo Deletion of 7.23 Mb in Region 7p13-p12.1.
López GP; Quispe BV; Cabrejas Núñez MJ; Castaño L; Barrio R
J Clin Res Pediatr Endocrinol; 2017 Dec; 9(4):355-359. PubMed ID: 28387648
[TBL] [Abstract][Full Text] [Related]
11. Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry.
Sagen JV; Bjørkhaug L; Molnes J; Raeder H; Grevle L; Søvik O; Molven A; Njølstad PR
Pediatr Diabetes; 2008 Oct; 9(5):442-9. PubMed ID: 18399931
[TBL] [Abstract][Full Text] [Related]
12. A novel mutation in GCK gene: Beware of SGA child with diabetic mother.
Tagliaferri F; Grosso C; Balbo M; Bracciolini G; Bertelli E; Secco A; Salina A; Aloi C; Gallo M; Felici E
Diabetes Res Clin Pract; 2021 Nov; 181():109081. PubMed ID: 34627944
[TBL] [Abstract][Full Text] [Related]
13. Analysis of mutations in the glucokinase gene in people clinically characterized as MODY2 without a family history of diabetes.
Lopez AP; de Dios A; Chiesa I; Perez MS; Frechtel GD
Diabetes Res Clin Pract; 2016 Aug; 118():38-43. PubMed ID: 27289208
[TBL] [Abstract][Full Text] [Related]
14. Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients.
Garin I; Rica I; Estalella I; Oyarzabal M; Rodríguez-Rigual M; San Pedro JI; Pérez-Nanclares G; Fernández-Rebollo E; Busturia MA; Castaño L; Pérez de Nanclares G;
Clin Endocrinol (Oxf); 2008 Jun; 68(6):873-8. PubMed ID: 18248649
[TBL] [Abstract][Full Text] [Related]
15. Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation.
Chakera AJ; Steele AM; Gloyn AL; Shepherd MH; Shields B; Ellard S; Hattersley AT
Diabetes Care; 2015 Jul; 38(7):1383-92. PubMed ID: 26106223
[TBL] [Abstract][Full Text] [Related]
16. Zoom-in comparative genomic hybridisation arrays for the characterisation of variable breakpoint contiguous gene syndromes.
Johnston JJ; Walker RL; Davis S; Facio F; Turner JT; Bick DP; Daentl DL; Ellison JW; Meltzer PS; Biesecker LG
J Med Genet; 2007 Jan; 44(1):e59. PubMed ID: 17098889
[TBL] [Abstract][Full Text] [Related]
17. Mutations in GCK May Lead to MODY2 by Reducing Glycogen Synthesis.
Li Z; Li K; Sun Y; Jiang X; Liu J; Li J; Fang L; Li G; Guan Q; Xu C
Adv Biol (Weinh); 2022 Nov; 6(11):e2200097. PubMed ID: 35770790
[TBL] [Abstract][Full Text] [Related]
18. Acute lymphoblastic leukemia in a patient with Greig cephalopolysyndactyly and interstitial deletion of chromosome 7 del(7)(p11.2 p14) involving the GLI3 and ZNFN1A1 genes.
Mendoza-Londono R; Kashork CD; Shaffer LG; Krance R; Plon SE
Genes Chromosomes Cancer; 2005 Jan; 42(1):82-6. PubMed ID: 15390181
[TBL] [Abstract][Full Text] [Related]
19. Point mutations in human GLI3 cause Greig syndrome.
Wild A; Kalff-Suske M; Vortkamp A; Bornholdt D; König R; Grzeschik KH
Hum Mol Genet; 1997 Oct; 6(11):1979-84. PubMed ID: 9302279
[TBL] [Abstract][Full Text] [Related]
20. Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.
Estalella I; Rica I; Perez de Nanclares G; Bilbao JR; Vazquez JA; San Pedro JI; Busturia MA; Castaño L;
Clin Endocrinol (Oxf); 2007 Oct; 67(4):538-46. PubMed ID: 17573900
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
