136 related articles for article (PubMed ID: 31228225)
1. Optic disc swelling in acromicric and geleophysic dysplasia.
Moey LH; Flaherty M; Zankl A
Am J Med Genet A; 2019 Sep; 179(9):1898-1901. PubMed ID: 31228225
[No Abstract] [Full Text] [Related]
2. Acromicric Dysplasia Caused by a Novel Heterozygous Mutation of FBN1 and Effects of Growth Hormone Treatment.
Jin HS; Song HY; Cho SY; Ki CS; Yang SH; Kim OH; Kim SJ
Ann Lab Med; 2017 Jan; 37(1):92-94. PubMed ID: 27834076
[No Abstract] [Full Text] [Related]
3. Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features.
Hasegawa K; Numakura C; Tanaka H; Furujo M; Kubo T; Higuchi Y; Yamashita M; Tsukahara H
J Pediatr Endocrinol Metab; 2017 Jan; 30(1):117-121. PubMed ID: 27935852
[TBL] [Abstract][Full Text] [Related]
4. Acrocapitofemoral dysplasia: an autosomal recessive skeletal dysplasia with cone shaped epiphyses in the hands and hips.
Mortier GR; Kramer PP; Giedion A; Beemer FA
J Med Genet; 2003 Mar; 40(3):201-7. PubMed ID: 12624140
[No Abstract] [Full Text] [Related]
5. Novel mutations in geleophysic dysplasia type 1.
Porayette P; Fruitman D; Lauzon JL; Le Goff C; Cormier-Daire V; Sanders SP; Pinto-Rojas A; Perez-Atayde AR
Pediatr Dev Pathol; 2014; 17(3):209-16. PubMed ID: 24251637
[TBL] [Abstract][Full Text] [Related]
6. A chinese boy with geleophysic dysplasia caused by compound heterozygous mutations in ADAMTSL2.
Li D; Dong H; Zheng H; Song J; Li X; Jin Y; Liu Y; Yang Y
Eur J Med Genet; 2017 Dec; 60(12):685-689. PubMed ID: 28917829
[TBL] [Abstract][Full Text] [Related]
7. A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia.
Cheng SW; Luk HM; Chu YWY; Tung YL; Kwan EY; Lo IF; Chung BH
Eur J Med Genet; 2018 Apr; 61(4):219-224. PubMed ID: 29191498
[TBL] [Abstract][Full Text] [Related]
8. Two Patients with Severe Short Stature due to a FBN1 Mutation (p.Ala1728Val) with a Mild Form of Acromicric Dysplasia.
de Bruin C; Finlayson C; Funari MF; Vasques GA; Lucheze Freire B; Lerario AM; Andrew M; Hwa V; Dauber A; Jorge AA
Horm Res Paediatr; 2016; 86(5):342-348. PubMed ID: 27245183
[TBL] [Abstract][Full Text] [Related]
9. Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care.
Legare JM; Modaff P; Strom SP; Pauli RM; Bartlett HL
Am J Med Genet A; 2018 Nov; 176(11):2237-2242. PubMed ID: 30195254
[TBL] [Abstract][Full Text] [Related]
10. Acromicric dysplasia with stiff skin syndrome-like severe cutaneous presentation in an 8-year-old boy with a missense FBN1 mutation: Case report and literature review.
Wang T; Yang Y; Dong Q; Zhu H; Liu Y
Mol Genet Genomic Med; 2020 Jul; 8(7):e1282. PubMed ID: 32406602
[TBL] [Abstract][Full Text] [Related]
11. Acromicric dysplasia and geleophysic dysplasia: similarities and differences.
Hennekam RC; van Bever Y; Oorthuys JW
Eur J Pediatr; 1996 Apr; 155(4):311-4. PubMed ID: 8777926
[TBL] [Abstract][Full Text] [Related]
12. Cardiac involvement in geleophysic dysplasia in three siblings of a Saudi family.
Elhoury ME; Faqeih E; Almoukirish AS; Galal MO
Cardiol Young; 2015 Jan; 25(1):81-6. PubMed ID: 24192049
[TBL] [Abstract][Full Text] [Related]
13. Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.
McInerney-Leo AM; Le Goff C; Leo PJ; Kenna TJ; Keith P; Harris JE; Steer R; Bole-Feysot C; Nitschke P; Kielty C; Brown MA; Zankl A; Duncan EL; Cormier-Daire V
J Med Genet; 2016 Jul; 53(7):457-64. PubMed ID: 27068007
[TBL] [Abstract][Full Text] [Related]
14. Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations.
Drijvers JM; Lefeber DJ; de Munnik SA; Pfundt R; van de Leeuw N; Marcelis C; Thiel C; Koerner C; Wevers RA; Morava E
Clin Genet; 2010 May; 77(5):507-9. PubMed ID: 20447155
[No Abstract] [Full Text] [Related]
15. Skin fibroblasts of patients with geleophysic dysplasia due to FBN1 mutations have lysosomal inclusions and losartan improves their microfibril deposition defect.
Piccolo P; Sabatino V; Mithbaokar P; Polishchuk E; Hicks J; Polishchuk R; Bacino CA; Brunetti-Pierri N
Mol Genet Genomic Med; 2019 Sep; 7(9):e844. PubMed ID: 31350823
[TBL] [Abstract][Full Text] [Related]
16. Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates.
Ben-Salem S; Hertecant J; Al-Shamsi AM; Ali BR; Al-Gazali L
Birth Defects Res A Clin Mol Teratol; 2013 Dec; 97(12):764-9. PubMed ID: 24014090
[TBL] [Abstract][Full Text] [Related]
17. Similarity of geleophysic dysplasia and Weill-Marchesani syndrome.
Kochhar A; Kirmani S; Cetta F; Younge B; Hyland JC; Michels V
Am J Med Genet A; 2013 Dec; 161A(12):3130-2. PubMed ID: 24214363
[TBL] [Abstract][Full Text] [Related]
18. Limb- and tendon-specific Adamtsl2 deletion identifies a role for ADAMTSL2 in tendon growth in a mouse model for geleophysic dysplasia.
Hubmacher D; Taye N; Balic Z; Thacker S; Adams SM; Birk DE; Schweitzer R; Apte SS
Matrix Biol; 2019 Sep; 82():38-53. PubMed ID: 30738849
[TBL] [Abstract][Full Text] [Related]
19. Geleophysic dysplasia: a novel in-frame deletion of a tandem repeat in the ADAMTSL2 gene.
García-Ortiz L; Gutiérrez-Salinas J; Del Carmen Chima Galán M; García RL; de la Concepción A Yerena M
Am J Med Genet A; 2015 Aug; 167A(8):1949-51. PubMed ID: 25850559
[No Abstract] [Full Text] [Related]
20. Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I.
Mackenroth L; Rump A; Lorenz P; Schröck E; Tzschach A
Clin Dysmorphol; 2016 Jul; 25(3):106-9. PubMed ID: 27057656
[No Abstract] [Full Text] [Related]
[Next] [New Search]
