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Mutated MESP2 causes spondylocostal dysostosis in humans.
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61
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Whittock NV...Turnpenny PD
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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
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Turnpenny PD...Ellard S
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12746394 |
2003 |
| 3 |
Dynamic expression patterns of the pudgy/spondylocostal dysostosis gene Dll3 in the developing nervous system.
54
61
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Kusumi K...Krumlauf R
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11118901 |
2001 |
| 4 |
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.
54
61
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Bulman MP...Turnpenny PD
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10742114 |
2000 |
| 5 |
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
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61
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Ruiz-Perez VL...Goodship J
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10700184 |
2000 |
| 6 |
Ichthyosis: the skin manifestation of multiple sulfatase deficiency.
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54
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Castano Suarez E...Coll Rosell MJ
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9336808 |
1997 |
| 7 |
Prevention methods for Treacher Collins syndrome: A systematic review.
61
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Guo P...Lin L
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32361149 |
2020 |
| 8 |
Spliceosomopathies: diseases and mechanisms.
61
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Griffin C...Saint-Jeannet JP
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32506634 |
2020 |
| 9 |
Congenital posterior cervical spine malformation due to biallelic c.240-4T>G RIPPLY2 variant: A discrete entity.
61
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Serey-Gaut M...Van Maldergem L
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32212228 |
2020 |
| 10 |
A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type.
61
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Narumi-Kishimoto Y...Matsubara Y
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32541334 |
2020 |
| 11 |
Identification of a novel gross deletion of TCOF1 in a Chinese prenatal case with Treacher Collins syndrome.
61
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Liu J...Wang H
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32543076 |
2020 |
| 12 |
Broad-spectrum next-generation sequencing-based diagnosis of a case of Nager syndrome.
61
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Zhao J...Yang L
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32537850 |
2020 |
| 13 |
Posterior fossa subdural hematoma in a neonate with cleidocranial dysostosis after a spontaneous vaginal delivery: a case report.
61
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Nagasaka S...Yamamoto J
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32504170 |
2020 |
| 14 |
Hyoid Bone Position and Head Posture in Patients With Richieri-Costa Pereira Syndrome (EIF4A3 Mutations).
61
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Pinto RO...Dalben GDS
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32217860 |
2020 |
| 15 |
Novel Splice Site Pathogenic Variant of EFTUD2 Is Associated with Mandibulofacial Dysostosis with Microcephaly and Extracranial Symptoms in Korea.
61
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Kim SY...Choi BY
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32408545 |
2020 |
| 16 |
Is Gorlin-Chaudhry-Moss syndrome associated with aortopathy?
61
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Legue J...van Brakel TJ
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32355952 |
2020 |
| 17 |
Loss-of-function of Endothelin receptor type A results in Oro-Oto-Cardiac syndrome.
61
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Pritchard AB...Clouthier DE
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32133772 |
2020 |
| 18 |
Identification of two novel variants in GNPTAB underlying mucolipidosis II in a Pakistani family.
61
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Khan MA...Naeem M
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32238606 |
2020 |
| 19 |
A novel familial mutation associated with Treacher Collins syndrome: A case report.
61
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Papageorgiou E...Fidani S
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32257192 |
2020 |
| 20 |
Heterozygous mutation of the splicing factor Sf3b4 affects development of the axial skeleton and forebrain in mouse.
61
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Yamada T...Iseki S
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31900962 |
2020 |
| 21 |
Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway.
61
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Kang H...Marini JC
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32232430 |
2020 |
| 22 |
Recapitulating the human segmentation clock with pluripotent stem cells.
61
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Matsuda M...Alev C
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32238941 |
2020 |
| 23 |
EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type.
61
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Thomas HB...O'Keefe RT
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32333448 |
2020 |
| 24 |
Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome.
61
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Lemire GT...Delrue MA
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31880412 |
2020 |
| 25 |
Treacher Collins syndrome: A novel TCOF1 mutation and monopodial stapes.
61
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Kantaputra PN...Sonsuwan N
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32351010 |
2020 |
| 26 |
Upper Limb Ischaemia Caused by Cleidocranial Dysostosis.
61
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van de Luijtgaarden KM...van Brussel JP
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31902659 |
2020 |
| 27 |
First report of THOC6 related intellectual disability (Beaulieu Boycott Innes syndrome) in two siblings from India.
61
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Gupta N...Kabra M
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31421288 |
2020 |
| 28 |
Catel-Manzke syndrome without Manzke dysostosis.
61
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Miller DE...Wenger TL
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31833187 |
2020 |
| 29 |
Bilateral presentation of different supernumerary teeth in nonsyndromic patients: case reports.
61
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Jain A...Taneja S
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32105225 |
2020 |
| 30 |
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.
61
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Sanchez E...Genevieve D
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31649276 |
2020 |
| 31 |
A dominant vimentin variant causes a rare syndrome with premature aging.
61
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Cogne B...Isidor B
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32066935 |
2020 |
| 32 |
A Case Report of a Japanese Boy with Morquio A Syndrome: Effects of Enzyme Replacement Therapy Initiated at the Age of 24 Months.
61
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Nakamura-Utsunomiya A...Okada S
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32024277 |
2020 |
| 33 |
Morquio-B disease: Clinical and genetic characteristics of a distinct GLB1-related dysostosis multiplex.
61
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Abumansour IS...Stockler-Ipsiroglu S
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32071837 |
2020 |
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Non-progressive Nonimmune Hydrops Fetalis Caused by a Novel Mutation in GUSB Gene.
61
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Mosallanejad A...Saneifard H
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32256629 |
2020 |
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Jean-Charles Chatelin (1884-1948), counted among the "Righteous", but forgotten as a neurologist who studied under Pierre Marie.
61
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Walusinski O
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31279440 |
2020 |
| 36 |
Anaesthetic management of a parturient with spondylothoracic dysostosis.
61
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Zbeidy R...Souki FG
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31980478 |
2020 |
| 37 |
Patient with Crouzon Syndrome Treated with Modified Le Fort III Osteotomy without Previous Orthodontic Treatment: Case Report and a Review of the Literature.
61
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Mohammadi F...Mojtahedi H
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32351741 |
2020 |
| 38 |
Jarcho-Levin Syndrome: Two Consecutive Cases in the Same Family.
61
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Grigorios P...Konstantinos P
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32518573 |
2019 |
| 39 |
EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway.
61
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Wu J...Luo F
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31806011 |
2019 |
| 40 |
Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies.
61
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Mouthon L...Sigaudy S
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31509347 |
2019 |
| 41 |
Disease modeling of core pre-mRNA splicing factor haploinsufficiency.
61
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Wood KA...O'Keefe RT
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31304552 |
2019 |
| 42 |
Otopathology in Kleefstra Syndrome: A Case Report.
61
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Okayasu T...Nadol JB
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31750954 |
2019 |
| 43 |
Imaging diagnosis of Crouzon syndrome in two cases confirmed on genetic studies - with a brief review.
61
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Grover SB...Chellani H
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31949350 |
2019 |
| 44 |
Butterfly Vertebrae: A Systematic Review of the Literature and Analysis.
61
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Katsuura Y...Kim HJ
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31448202 |
2019 |
| 45 |
Bi-allelic loss of function variants of TBX6 causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis.
61
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Otomo N...Ikegawa S
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31015262 |
2019 |
| 46 |
Erosive pustular dermatosis of the scalp in an adolescent with near-total hair regrowth: Case report and review of the literature.
61
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Teng C...Treat JR
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31355463 |
2019 |
| 47 |
Intraoperative Three-dimensional Virtual Reality and Computed Tomographic Guidance in Temporomandibular Joint Arthroplasty of Syndromic Craniofacial Dysostoses.
61
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Bradley D...Lee JC
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31741810 |
2019 |
| 48 |
Extremely severe scoliosis, heterotopic ossification, and osteoarthritis in a three-generation family with Crouzon syndrome carrying a mutant c.799T>C FGFR2.
61
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Lin M...Jiang M
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31318164 |
2019 |
| 49 |
An In Vitro Human Segmentation Clock Model Derived from Embryonic Stem Cells.
61
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Chu LF...Thomson JA
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31461642 |
2019 |
| 50 |
A Novel Homozygous Mutation in the FUCA1 Gene Highlighting Fucosidosis as a Cause of Dystonia: Case Report and Literature Review.
61
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Wali G...Kumar KR
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31064022 |
2019 |
Rare bone diseases 
