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Items: 1 to 20 of 132

1.

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. doi: 10.1016/j.pediatrneurol.2014.01.004. Epub 2014 Jan 7.

PMID:
24630288
2.

Epileptic phenotype of FGFR3-related bilateral medial temporal lobe dysgenesis.

Okazaki T, Saito Y, Ueda R, Awashima T, Nishimura Y, Yuasa I, Shinohara Y, Adachi K, Sasaki M, Nanba E, Maegaki Y.

Brain Dev. 2017 Jan;39(1):67-71. doi: 10.1016/j.braindev.2016.07.004. Epub 2016 Jul 30.

PMID:
27485793
3.

Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.

Linnankivi T, Mäkitie O, Valanne L, Toiviainen-Salo S.

Am J Med Genet A. 2012 Dec;158A(12):3119-25. doi: 10.1002/ajmg.a.35642. Epub 2012 Nov 19.

PMID:
23165795
4.

Temporal and occipital lobe features in children with hypochondroplasia/FGFR3 gene mutation.

Philpott CM, Widjaja E, Raybaud C, Branson HM, Kannu P, Blaser S.

Pediatr Radiol. 2013 Sep;43(9):1190-5. doi: 10.1007/s00247-013-2684-3. Epub 2013 May 7.

PMID:
23649205
5.

Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia.

Cesaretti C, Spaccini L, Rustico M, Parazzini C, Doneda C, Re TJ, Righini A.

Prenat Diagn. 2014 Oct;34(10):1015-7. doi: 10.1002/pd.4415. Epub 2014 Jun 11.

PMID:
24839128
6.

Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.

Korkmaz HA, Hazan F, Dizdarer C, Tükün A.

J Clin Res Pediatr Endocrinol. 2012 Dec;4(4):220-2. doi: 10.4274/jcrpe.787. Epub 2012 Nov 12.

7.

Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia.

Grosso S, Farnetani MA, Berardi R, Bartalini G, Carpentieri M, Galluzzi P, Mostardini R, Morgese G, Balestri P.

Am J Med Genet A. 2003 Jul 1;120A(1):88-91.

PMID:
12794698
8.

Medial temporal lobe dysgenesis in hypochondroplasia.

Kannu P, Hayes IM, Mandelstam S, Donnan L, Savarirayan R.

Am J Med Genet A. 2005 Nov 1;138(4):389-91.

PMID:
16222682
9.

A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing.

Wang H, Sun Y, Wu W, Wei X, Lan Z, Xie J.

Clin Chim Acta. 2013 Aug 23;423:62-5. doi: 10.1016/j.cca.2013.04.015. Epub 2013 Apr 24.

PMID:
23726269
10.

FGFR3 mutations and medial temporal lobe dysgenesis.

Kannu P, Aftimos S.

J Child Neurol. 2007 Feb;22(2):211-3.

PMID:
17621485
11.

Homozygous N540K hypochondroplasia--first report: radiological and clinical features.

De Rosa ML, Fano V, Araoz HV, Chertkoff L, Obregon MG.

Am J Med Genet A. 2014 Jul;164A(7):1784-8. doi: 10.1002/ajmg.a.36504. Epub 2014 Apr 8.

PMID:
24715719
12.

New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia.

Song SH, Balce GC, Agashe MV, Lee H, Hong SJ, Park YE, Kim SG, Song HR.

Am J Med Genet A. 2012 Oct;158A(10):2456-62. doi: 10.1002/ajmg.a.35564. Epub 2012 Aug 17.

PMID:
22903874
13.

Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation.

Cossiez Cacard MA, Coulombe J, Bernard P, Kaci N, Bressieux JM, Souchon PF, Motte J, Legeai-Mallet L, Hadj-Rabia S, Eschard C.

J Eur Acad Dermatol Venereol. 2016 May;30(5):897-8. doi: 10.1111/jdv.13061. Epub 2015 Mar 24. No abstract available.

PMID:
25809207
14.

Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: prenatal diagnosis and literature review.

Chen CP, Su YN, Lin TH, Chang TY, Su JW, Wang W.

Taiwan J Obstet Gynecol. 2013 Dec;52(4):580-5. doi: 10.1016/j.tjog.2013.10.023. Review.

15.

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. doi: 10.1002/uog.13359.

16.

ASN540SER mutation is associated with a mild form of hypochondroplasia: a 7 years follow-up in an Italian boy.

De Sanctis V, Baldi M, Marsciani A, Ravaioli E, Timoncini G, Reggiani L, Sensi A, Zucchini A.

Georgian Med News. 2012 Sep;(210):77-82. English, Georgian.

PMID:
23045425
17.

[Clinical analysis and genetic diagnosis of short-limb inherited short stature diseases in children].

Li F, Ma HW, Song Y, Hu M, Ren S, Yu YF, Zhao GJ.

Zhongguo Dang Dai Er Ke Za Zhi. 2013 Nov;15(11):932-6. Chinese.

18.

Children with short-limbed short stature in pediatric endocrinological services in Japan.

Hasegawa K, Tanaka H.

Pediatr Int. 2014 Dec;56(6):809-12. doi: 10.1111/ped.12511. Epub 2014 Nov 28. Review.

PMID:
25244068
19.

Criteria for radiologic diagnosis of hypochondroplasia in neonates.

Saito T, Nagasaki K, Nishimura G, Wada M, Nyuzuki H, Takagi M, Hasegawa T, Amano N, Murotsuki J, Sawai H, Yamada T, Sato S, Saitoh A.

Pediatr Radiol. 2016 Apr;46(4):513-8. doi: 10.1007/s00247-015-3518-2. Epub 2016 Feb 11.

PMID:
26867606
20.

Improvement of molecular-genetic diagnostics of the most common skeletal dysplasias.

Kotysova L, Mattosova S, Chandoga J.

Bratisl Lek Listy. 2015;116(8):465-8.

PMID:
26350084

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