| 1 |
Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia.
62
|
Barad M...Duran I
|
33242826 |
2020 |
| 2 |
Nuclear FGFR2 regulates musculoskeletal integration within the developing limb.
62
|
Salva JE...Merrill AE
|
30620790 |
2019 |
| 3 |
The bHLH Protein Nulp1 is Essential for Femur Development Via Acting as a Cofactor in Wnt Signaling in Drosophila.
62
|
Zeng Q...Wu X
|
29437009 |
2018 |
| 4 |
FGFR2 mutations in bent bone dysplasia syndrome activate nucleolar stress and perturb cell fate determination.
62
|
Neben CL...Merrill AE
|
28595297 |
2017 |
| 5 |
Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis.
62
|
Azoury SC...Deng CX
|
29230096 |
2017 |
| 6 |
Clinical and radiographic delineation of Bent Bone Dysplasia-FGFR2 type or Bent Bone Dysplasia with Distinctive Clavicles and Angel-shaped Phalanges.
62
|
Krakow D...Lachman RS
|
27240702 |
2016 |
| 7 |
A new case of bent bone dysplasia--FGFR2 type and review of the literature.
62
|
Stichelbout M...Petit F
|
26573129 |
2016 |
| 8 |
Bent bone dysplasia (BBD)-FGFR2 type: the radiologic manifestations in early gestation.
62
|
Handa A...Kurihara Y
|
26446305 |
2016 |
| 9 |
Intragenic Deletion in the LIFR Gene in a Long-Term Survivor with Stüve-Wiedemann Syndrome.
62
|
Hatagami Marques J...Romeo Bertola D
|
26279654 |
2015 |
| 10 |
Bent bone dysplasia syndrome reveals nucleolar activity for FGFR2 in ribosomal DNA transcription.
62
|
Neben CL...Merrill AE
|
24908667 |
2014 |
| 11 |
Crouzon syndrome and Bent bone dysplasia associated with mutations at the same Tyr-381 residue in FGFR2 gene.
62
|
Collet C...Di Rocco F
|
23808569 |
2014 |
| 12 |
Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology.
62
|
Mikelonis D...Oxford JT
|
24618404 |
2014 |
| 13 |
The postnatal features of bent bone dysplasia-FGFR2 type.
62
|
Scott RH...Hurst JA
|
24300289 |
2014 |
| 14 |
Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling.
62
|
Merrill AE...Krakow D
|
22387015 |
2012 |
| 15 |
New insights in congenital bowing of the femora.
62
|
Cormier-Daire V...Le Merrer M
|
15324311 |
2004 |
| 16 |
Benign form of congenital angulation of long bones associated with shortening of soft tissues.
62
|
Nakamura K...Iizuka T
|
9546823 |
1998 |
| 17 |
The scapula as a window to the diagnosis of skeletal dysplasias.
62
|
Mortier GR...Lachman RS
|
9133361 |
1997 |
| 18 |
Stüve-Wiedemann dysplasia in a 3 1/2-year-old boy.
62
|
Kozlowski K...Tenconi R
|
8723081 |
1996 |
Rare bone diseases 
