| 1 |
Unique association of hypochondroplasia with craniosynostosis and cleft palate in a Mexican family. ( 29150894
)
|
GonzA!lez-Del Angel A....Moyers-PAcrez P.
|
2018 |
| 2 |
A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia. ( 29736252
)
|
Takahashi I....Takahashi T.
|
2018 |
| 3 |
Identification of a novel mutation in the FGFR3 gene in a Chinese family with Hypochondroplasia. ( 29080836
)
|
Chen J....Xu C.
|
2018 |
| 4 |
Further delineation of achondroplasia-hypochondroplasia complex with long-term survival. ( 29681095
)
|
GonzA!lez-Del Angel A....Mata-GarcA-a L.E.
|
2018 |
| 5 |
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation. ( 28181399
)
|
Couser N.L....Powell C.M.
|
2017 |
| 6 |
Dentoalveolar Abscesses Not Associated with Caries or Trauma: A Diagnostic Hallmark of Hypophosphatemic Rickets Initially Misdiagnosed as Hypochondroplasia. ( 29190002
)
|
Paredes S.E.Y....LeA^n J.E.
|
2017 |
| 7 |
Acanthosis nigricans in a Japanese boy with hypochondroplasia due to a K650T mutation in<i>FGFR3</i>. ( 29026271
)
|
Hirai H....Ishii E.
|
2017 |
| 8 |
Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia. ( 28763161
)
|
Porntaveetus T....Shotelersuk V.
|
2017 |
| 9 |
Serum NT-proCNP levels increased after initiation of GH treatment in patients with achondroplasia/hypochondroplasia. ( 26814021
)
|
Kubota T....Ozono K.
|
2016 |
| 10 |
Criteria for radiologic diagnosis of hypochondroplasia in neonates. ( 26867606
)
|
Saito T....Saitoh A.
|
2016 |
| 11 |
A Japanese familial case of hypochondroplasia with a novel mutation in FGFR3. ( 27507911
)
|
Nagahara K....Hasegawa Y.
|
2016 |
| 12 |
Height outcome of short children with hypochondroplasia after recombinant human growth hormone treatment: a meta-analysis. ( 26555758
)
|
Massart F....Bertelloni S.
|
2015 |
| 13 |
Familial hypochondroplasia and acanthosis nigricans with FGFR3 K650T mutation. ( 25809207
)
|
Cossiez Cacard M.A....Eschard C.
|
2015 |
| 14 |
Low bone mineral density in achondroplasia and hypochondroplasia. ( 26716907
)
|
Matsushita M....Ishiguro N.
|
2015 |
| 15 |
Does the co-occurrence of FGFR3 gene mutation in hypochondroplasia, medial temporal lobe dysgenesis, and focal epilepsy suggest a syndrome? ( 24630288
)
|
Romeo A....Milani D.
|
2014 |
| 16 |
C-type natriuretic peptide (CNP) plasma levels are elevated in subjects with achondroplasia, hypochondroplasia, and thanatophoric dysplasia. ( 25387261
)
|
Olney R.C....Bober M.B.
|
2014 |
| 17 |
Growth hormone treatment in patients with hypochondroplasia. ( 25531227
)
|
Regelmann M.O....Rapaport R.
|
2014 |
| 18 |
Early and late fracture following extensive limb lengthening in patients with achondroplasia and hypochondroplasia. ( 25183602
)
|
Kitoh H....Ishiguro N.
|
2014 |
| 19 |
An association of hypochondroplasia and immune deficiency. ( 24756051
)
|
PatA+roglu T....Kurtoglu S.
|
2014 |
| 20 |
Prenatal magnetic resonance imaging detection of temporal lobes and hippocampal anomalies in hypochondroplasia. ( 24839128
)
|
Cesaretti C....Righini A.
|
2014 |
| 21 |
Homozygous N540K hypochondroplasia--first report: radiological and clinical features. ( 24715719
)
|
De Rosa M.L....Obregon M.G.
|
2014 |
| 22 |
Efficacy and Safety of Growth Hormone Treatment in Children with Hypochondroplasia: Comparison with an Historical Cohort. ( 25323764
)
|
Pinto G....Polak M.
|
2014 |
| 23 |
Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association? ( 25505998
)
|
Mustafa M....Bin-Abbas B.
|
2014 |
| 24 |
A novel missense mutation of FGFR3 in a Chinese female and her fetus with Hypochondroplasia by next-generation sequencing. ( 23726269
)
|
Wang H....Xie J.
|
2013 |
| 25 |
Detection of a de novo Y278C mutation in FGFR3 in a pregnancy with severe fetal hypochondroplasia: Prenatal diagnosis and literature review. ( 24411048
)
|
Chen C.P....Wang W.
|
2013 |
| 26 |
Treatment of varus deformities of the lower limbs in patients with achondroplasia and hypochondroplasia. ( 23459260
)
|
Kaissi A.A....Grill F.
|
2013 |
| 27 |
Successful birth with preimplantation genetic diagnosis using single-cell allele-specific PCR and sequencing in a woman with hypochondroplasia due to FGFR3 mutation (c.1620C&gt;A, p.N540K). ( 23614116
)
|
Park K.E....Moon S.Y.
|
2013 |
| 28 |
New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia. ( 22903874
)
|
Song S.H....Song H.R.
|
2012 |
| 29 |
Hypochondroplasia in a child with 1620C&gt;G (Asn540Lys) mutation in FGFR3. ( 23149434
)
|
Korkmaz H.A....TA1kA1n A.
|
2012 |
| 30 |
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. ( 23165795
)
|
Linnankivi T....Toiviainen-Salo S.
|
2012 |
| 31 |
A pilot study of discontinuous, insulin-like growth factor 1-dosing growth hormone treatment in young children with FGFR3 N540K-mutated hypochondroplasia. ( 22137367
)
|
Rothenbuhler A....BougnA"res P.
|
2012 |
| 32 |
Achondroplasia-hypochondroplasia complex and abnormal pulmonary anatomy. ( 22888019
)
|
Bober M.B....Mackenzie W.
|
2012 |
| 33 |
ASN540SER mutation is associated with a mild form of hypochondroplasia: a 7 years follow-up in an Italian boy. ( 23045425
)
|
De Sanctis V....Zucchini A.
|
2012 |
| 34 |
Radiological clues to the early diagnosis of hypochondroplasia in the neonatal period: report of two patients. ( 22302603
)
|
Saito T....Uchiyama M.
|
2012 |
| 35 |
Diagnostics and management of sleep-related respiratory disturbances in children with skeletal dysplasia caused by FGFR3 mutations (achondroplasia and hypochondroplasia). ( 21873755
)
|
SchlA1ter B....Andler W.
|
2011 |
| 36 |
Hypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient. ( 21225389
)
|
Dumic K....Sansovic I.
|
2011 |
| 37 |
[Cytokines in bone diseases. FGF receptor signaling and achondroplasia/hypochondroplasia]. ( 20890030
)
|
Tanaka H.
|
2010 |
| 38 |
FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature. ( 20453470
)
|
Blomberg M....Benfeldt E.
|
2010 |
| 39 |
Improving mobility in a client with hypochondroplasia (dwarfism): a case report. ( 20226364
)
|
Hanson A.A.
|
2010 |
| 40 |
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3. ( 21510009
)
|
Berk D.R....Schrijver I.
|
2010 |
| 41 |
Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al. ( 17895900
)
|
Friez M.J....Wilson J.A.
|
2008 |
| 42 |
Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene? ( 18583390
)
|
Castro-FeijA^o L....Pombo M.
|
2008 |
| 43 |
Clinical hypochondroplasia in a family caused by a heterozygous double mutation in FGFR3 encoding GLY380LYS. ( 17256796
)
|
Santos H.G....Wilkie A.
|
2007 |
| 44 |
Distraction osteogenesis of the lower extremity in patients with achondroplasia/hypochondroplasia treated with transplantation of culture-expanded bone marrow cells and platelet-rich plasma. ( 17717461
)
|
Kitoh H....Ishiguro N.
|
2007 |
| 45 |
Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. ( 16912704
)
|
Heuertz S....Bonaventure J.
|
2006 |
| 46 |
Skin behavior during leg lengthening in patients with achondroplasia and hypochondroplasia: a short-term observation during leg lengthening. ( 16721528
)
|
Hiraki S....Kurokawa T.
|
2006 |
| 47 |
Metacarpophalangeal pattern profile analysis: useful diagnostic tool for differentiating between dyschondrosteosis, Turner syndrome, and hypochondroplasia. ( 16796318
)
|
Laurencikas E....Jorulf H.
|
2006 |
| 48 |
Prenatal diagnosis of hypochondroplasia: three-dimensional multislice computed tomography findings and molecular analysis. ( 16354969
)
|
Bonnefoy O....Diard F.
|
2006 |
| 49 |
Prenatal diagnosis of hypochondroplasia: report of two cases. ( 16575888
)
|
Karadimas C....Hatzaki A.
|
2006 |
| 50 |
Comparison of clinical, radiological and molecular findings in Korean infants and children with achondroplasia and hypochondroplasia. ( 16355813
)
|
Shin Y.L....Yoo H.W.
|
2005 |
