132 related articles for article (PubMed ID: 34673602)
21. Thanatophoric dysplasia: autopsy findings over a 25-year period.
Vogt C; Blaas HG
Pediatr Dev Pathol; 2013; 16(3):160-7. PubMed ID: 23323754
[TBL] [Abstract][Full Text] [Related]
22. FGFR3 mutation in thanatophoric dysplasia type 1 with bilateral cystic renal dysplasia: coincidence or a new association?
Prontera P; Sensi A; Pilu G; Baldi M; Baffico M; Bonasoni R; Calzolari E
Genet Couns; 2006; 17(4):407-12. PubMed ID: 17375526
[TBL] [Abstract][Full Text] [Related]
23. Prenatal ultrasound and MRI findings of temporal and occipital lobe dysplasia in a twin with achondroplasia.
Pugash D; Lehman AM; Langlois S
Ultrasound Obstet Gynecol; 2014 Sep; 44(3):365-8. PubMed ID: 24616001
[TBL] [Abstract][Full Text] [Related]
24. Protein-losing enteropathy with intestinal lymphangiectasia in skeletal dysplasia with Lys650Met mutation.
Yang C; Dehner LP
Am J Med Genet A; 2016 Nov; 170(11):2993-2997. PubMed ID: 27214123
[TBL] [Abstract][Full Text] [Related]
25. G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia.
Katsumata N; Kuno T; Miyazaki S; Mikami S; Nagashima-Miyokawa A; Nimura A; Horikawa R; Tanaka T
Endocr J; 1998 Apr; 45 Suppl():S171-4. PubMed ID: 9790257
[TBL] [Abstract][Full Text] [Related]
26. The prevalence of thanatophoric dysplasia and lethal osteogenesis imperfecta type II in Northern Ireland - a complete population study.
Donnelly DE; McConnell V; Paterson A; Morrison PJ
Ulster Med J; 2010 Sep; 79(3):114-8. PubMed ID: 22375084
[TBL] [Abstract][Full Text] [Related]
27. The cerebral cortex malformation in thanatophoric dysplasia: neuropathology and pathogenesis.
Hevner RF
Acta Neuropathol; 2005 Sep; 110(3):208-21. PubMed ID: 16133544
[TBL] [Abstract][Full Text] [Related]
28. Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype.
Camera G; Baldi M; Strisciuglio G; Concolino D; Mastroiacovo P; Baffico M
Am J Med Genet; 2001 Dec; 104(4):277-81. PubMed ID: 11754059
[TBL] [Abstract][Full Text] [Related]
29. Does the co-occurrence of FGFR3 gene mutation in hypochondroplasia, medial temporal lobe dysgenesis, and focal epilepsy suggest a syndrome?
Romeo A; Lodi M; Viri M; Parente E; Baldi M; Righini A; Milani D
Pediatr Neurol; 2014 Apr; 50(4):427-30. PubMed ID: 24630288
[TBL] [Abstract][Full Text] [Related]
30. Cell reprogramming for skeletal dysplasia drug repositioning.
Karagiannis P; Tsumaki N
Cell Cycle; 2014; 13(24):3791-2. PubMed ID: 25426543
[No Abstract] [Full Text] [Related]
31. Thanatophoric dysplasia type I with syndactyly.
Brodie SG; Kitoh H; Lipson M; Sifry-Platt M; Wilcox WR
Am J Med Genet; 1998 Nov; 80(3):260-2. PubMed ID: 9843049
[TBL] [Abstract][Full Text] [Related]
32. Bone: statin therapy for skeletal dysplasia.
Sargent J
Nat Rev Endocrinol; 2014 Dec; 10(12):701. PubMed ID: 25265980
[No Abstract] [Full Text] [Related]
33. Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II.
Chen CP; Chang TY; Lin MH; Chern SR; Su JW; Wang W
Taiwan J Obstet Gynecol; 2013 Sep; 52(3):420-5. PubMed ID: 24075385
[TBL] [Abstract][Full Text] [Related]
34. Some chondrodysplasias with short limbs: molecular perspectives.
Cohen MM
Am J Med Genet; 2002 Oct; 112(3):304-13. PubMed ID: 12357475
[TBL] [Abstract][Full Text] [Related]
35. Three-dimensional and four-dimensional HDlive-rendered images of thanatophoric dysplasia.
Inubashiri E; Kuroki K; Maeda N; Kawai K; Akutagawa N; Sugawara M; Imai S; Minami K; Nomura Y
J Med Ultrason (2001); 2015 Apr; 42(2):281-5. PubMed ID: 26576586
[TBL] [Abstract][Full Text] [Related]
36. Bone dysplasia series. Achondroplasia, hypochondroplasia and thanatophoric dysplasia: review and update.
Lemyre E; Azouz EM; Teebi AS; Glanc P; Chen MF
Can Assoc Radiol J; 1999 Jun; 50(3):185-97. PubMed ID: 10405653
[TBL] [Abstract][Full Text] [Related]
37. Autopsy case of thanatophoric dysplasia: observations on the serial sections of the brain.
Yamaguchi K; Honma K
Neuropathology; 2001 Sep; 21(3):222-8. PubMed ID: 11666020
[TBL] [Abstract][Full Text] [Related]
38. Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).
Rousseau F; el Ghouzzi V; Delezoide AL; Legeai-Mallet L; Le Merrer M; Munnich A; Bonaventure J
Hum Mol Genet; 1996 Apr; 5(4):509-12. PubMed ID: 8845844
[TBL] [Abstract][Full Text] [Related]
39. Thanatophoric dysplasia caused by double missense FGFR3 mutations.
Pannier S; Martinovic J; Heuertz S; Delezoide AL; Munnich A; Schibler L; Serre V; Legeai-Mallet L
Am J Med Genet A; 2009 Jun; 149A(6):1296-301. PubMed ID: 19449430
[TBL] [Abstract][Full Text] [Related]
40. Disease models: Statins give bone growth a boost.
Olsen BR
Nature; 2014 Sep; 513(7519):494-5. PubMed ID: 25231860
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
