| 1 |
Mutated MESP2 causes spondylocostal dysostosis in humans.
54
61
|
Whittock NV...Turnpenny PD
|
15122512 |
2004 |
| 2 |
Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.
54
61
|
Turnpenny PD...Ellard S
|
12746394 |
2003 |
| 3 |
Dynamic expression patterns of the pudgy/spondylocostal dysostosis gene Dll3 in the developing nervous system.
54
61
|
Kusumi K...Krumlauf R
|
11118901 |
2001 |
| 4 |
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.
54
61
|
Bulman MP...Turnpenny PD
|
10742114 |
2000 |
| 5 |
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
54
61
|
Ruiz-Perez VL...Goodship J
|
10700184 |
2000 |
| 6 |
Ichthyosis: the skin manifestation of multiple sulfatase deficiency.
54
61
|
Castano Suarez E...Coll Rosell MJ
|
9336808 |
1997 |
| 7 |
A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months.
61
|
Nakamura-Utsunomiya A...Okada S
|
32024277 |
2020 |
| 8 |
Heterozygous mutation of the splicing factor Sf3b4 affects development of the axial skeleton and forebrain in mouse.
61
|
Yamada T...Iseki S
|
31900962 |
2020 |
| 9 |
Upper Limb Ischaemia Caused by Cleidocranial Dysostosis.
61
|
van de Luijtgaarden KM...van Brussel JP
|
31902659 |
2020 |
| 10 |
Anaesthetic management of a parturient with spondylothoracic dysostosis.
61
|
Zbeidy R...Souki FG
|
31980478 |
2020 |
| 11 |
EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway.
61
|
Wu J...Luo F
|
31806011 |
2019 |
| 12 |
Catel-Manzke syndrome without Manzke dysostosis.
61
|
Miller DE...Wenger TL
|
31833187 |
2019 |
| 13 |
Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome.
61
|
Lemire GT...Delrue MA
|
31880412 |
2019 |
| 14 |
Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies.
61
|
Mouthon L...Sigaudy S
|
31509347 |
2019 |
| 15 |
Disease modeling of core pre-mRNA splicing factor haploinsufficiency.
61
|
Wood KA...O'Keefe RT
|
31304552 |
2019 |
| 16 |
Otopathology in Kleefstra Syndrome: A Case Report.
61
|
Okayasu T...Nadol JB
|
31750954 |
2019 |
| 17 |
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.
61
|
Sanchez E...Genevieve D
|
31649276 |
2019 |
| 18 |
Imaging diagnosis of Crouzon syndrome in two cases confirmed on genetic studies - with a brief review.
61
|
Grover SB...Chellani H
|
31949350 |
2019 |
| 19 |
Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis.
61
|
Otomo N...Ikegawa S
|
31015262 |
2019 |
| 20 |
Butterfly Vertebrae: A Systematic Review of the Literature and Analysis.
61
|
Katsuura Y...Kim HJ
|
31448202 |
2019 |
| 21 |
Erosive pustular dermatosis of the scalp in an adolescent with near-total hair regrowth: Case report and review of the literature.
61
|
Teng C...Treat JR
|
31355463 |
2019 |
| 22 |
Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three-generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2.
61
|
Lin M...Jiang M
|
31318164 |
2019 |
| 23 |
Intraoperative Three-dimensional Virtual Reality and Computed Tomographic Guidance in Temporomandibular Joint Arthroplasty of Syndromic Craniofacial Dysostoses.
61
|
Bradley D...Lee JC
|
31741810 |
2019 |
| 24 |
An In Vitro Human Segmentation Clock Model Derived from Embryonic Stem Cells.
61
|
Chu LF...Thomson JA
|
31461642 |
2019 |
| 25 |
First report of THOC6 related intellectual disability (Beaulieu Boycott Innes syndrome) in two siblings from India.
61
|
Gupta N...Kabra M
|
31421288 |
2019 |
| 26 |
Treating Craniofacial Dysostoses with Hypertelorism by Monobloc Facial Bipartition Distraction: Surgical and Educational Videos.
61
|
Raposo-Amaral CE...Raposo-Amaral CA
|
31348356 |
2019 |
| 27 |
Discussion: Treating Craniofacial Dysostoses with Hypertelorism by Monobloc Facial Bipartition Distraction: Surgical and Educational Videos.
61
|
Fearon JA
|
31348357 |
2019 |
| 28 |
Clinical Evaluation of Melorheostosis in the Context of a Natural History Clinical Study.
61
|
Jha S...Bhattacharyya T
|
31485554 |
2019 |
| 29 |
Mandibulofacial dysostosis with microcephaly: a syndrome to remember.
61
|
Silva JB...Santos H
|
31413053 |
2019 |
| 30 |
A Novel Homozygous Mutation in the FUCA1 Gene Highlighting Fucosidosis as a Cause of Dystonia: Case Report and Literature Review.
61
|
Wali G...Kumar KR
|
31064022 |
2019 |
| 31 |
Identification of arylsulfatase B gene mutations and clinical presentations of Iranian patients with Mucopolysaccharidosis VI.
61
|
Aminzadeh M...Ghandil P
|
31009684 |
2019 |
| 32 |
Jean-Charles Chatelin (1884-1948), counted among the "Righteous", but forgotten as a neurologist who studied under Pierre Marie.
61
|
Walusinski O
|
31279440 |
2019 |
| 33 |
Quantitative anatomy of the primary ossification center in the fetal pubis bone.
61
|
Baumgart M...Pawlak-Osinska K
|
30927034 |
2019 |
| 34 |
Phenotypic heterogeneity of kyphoscoliosis with vertebral and rib defects: a case series.
61
|
Panigrahi I...Khandelwal N
|
30921094 |
2019 |
| 35 |
Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature.
61
|
Ghesh L...Isidor B
|
30957429 |
2019 |
| 36 |
Cleidocranial Dysplasia in a 10-year-old Child: A Case Report.
61
|
Vishnurekha C...Selvaraj S
|
31866723 |
2019 |
| 37 |
Orthodontic-Orthopedic-Surgical Treatment of Syndromic Third Class: Proposal of a New Craniofacial Cephalometric Method.
61
|
Coppotelli E...Silvestri A
|
30817519 |
2019 |
| 38 |
Early enzyme replacement therapy enables a successful hematopoietic stem cell transplantation in mucopolysaccharidosis type IH: Divergent clinical outcomes in two Japanese siblings.
61
|
Yamazaki N...Okuyama T
|
30755342 |
2019 |
| 39 |
The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature.
61
|
Drivas TG...Zackai EH
|
30924273 |
2019 |
| 40 |
Novel De Novo EFTUD2 Mutations in 2 Cases With MFDM, Initially Suspected to Have Alternative Craniofacial Diagnoses.
61
|
Lacour JC...Lacassie Y
|
30343593 |
2019 |
| 41 |
Chromosomal imbalance in pigs showing a syndromic form of cleft palate.
61
|
Grahofer A...Drogemuller C
|
31068123 |
2019 |
| 42 |
Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion.
61
|
Guffon N...Chevallier B
|
30740618 |
2019 |
| 43 |
Multidisciplinary Implant Rehabilitation of a Patient with Cleidocranial Dysostosis: A Journey from Age 13 to 21.
61
|
Ambard AJ...Phillips DS
|
30793425 |
2019 |
| 44 |
Difficult airway management in a patient with Treacher Collins syndrome using two-part surgery.
61
|
Perez Fernandez-Escandon A...Molina Montalva F
|
30661728 |
2019 |
| 45 |
Craniofacial Microsomia.
61
|
Birgfeld C...Heike C
|
30851752 |
2019 |
| 46 |
Phenotyping and genotyping of skeletal dysplasias: Evolution of a center and a decade of experience in India.
61
|
Uttarilli A...Girisha KM
|
30408610 |
2019 |
| 47 |
Identification of novel LFNG mutations in spondylocostal dysostosis.
61
|
Otomo N...Ikegawa S
|
30531807 |
2019 |
| 48 |
Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII.
61
|
Kantaputra PN...Tanpaiboon P
|
30653816 |
2019 |
| 49 |
Spondylocostal Dysostosis (Jarcho-Levin Syndrome) in an Adult Patient with Consanguineous Parents, in Long-Term Follow-Up.
61
|
Rustemi O...Segna A
|
30448585 |
2019 |
| 50 |
Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure.
61
|
Kuiper GA...Wijburg FA
|
30658664 |
2019 |
Rare bone diseases 
