| 1 |
Mutated MESP2 causes spondylocostal dysostosis in humans.
53
62
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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.
53
62
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Turnpenny PD...Ellard S
|
12746394 |
2003 |
| 3 |
Dynamic expression patterns of the pudgy/spondylocostal dysostosis gene Dll3 in the developing nervous system.
53
62
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Kusumi K...Krumlauf R
|
11118901 |
2001 |
| 4 |
Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis.
53
62
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Bulman MP...Turnpenny PD
|
10742114 |
2000 |
| 5 |
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
53
62
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Ruiz-Perez VL...Goodship J
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10700184 |
2000 |
| 6 |
Ichthyosis: the skin manifestation of multiple sulfatase deficiency.
53
62
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Castano Suarez E...Coll Rosell MJ
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9336808 |
1997 |
| 7 |
TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome.
62
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Li G...Wu N
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36161696 |
2022 |
| 8 |
Phenotypic and Molecular Heterogeneity in Mandibulofacial Dysostoses: A Case Series From India.
62
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Shenoy RD...Chakraborty A
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34714179 |
2022 |
| 9 |
Fetal autopsy for the diagnosis of skeletal dysplasia and comparison with prenatal ultrasound findings over a 16-year period.
62
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Ozdemir O...Sen C
|
35771677 |
2022 |
| 10 |
A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type.
62
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Ulhaq ZS...Tse WKF
|
36317361 |
2022 |
| 11 |
Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.
62
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Ranza E...Amiel J
|
36271508 |
2022 |
| 12 |
Radiographic Findings of Mucopolysaccharidosis and Comparison with Bone Mineral Density: A Study from Southeastern Turkey.
62
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Ayaz E...Bozaci AE
|
36100508 |
2022 |
| 13 |
Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency.
62
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Verheyen S...Plecko B
|
34916232 |
2022 |
| 14 |
Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum.
62
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Guleray N...Alikasifoglu M
|
34410171 |
2022 |
| 15 |
Dynamic regulation and requirement for ribosomal RNA transcription during mammalian development.
62
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Falcon KT...Trainor PA
|
35881792 |
2022 |
| 16 |
Intrafamilial Phenotypic Heterogeneity in a Chinese Family with a POLR1D p.Q31Rfs*10 Variant: A Challenge in Prenatal Diagnosis.
62
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Yang YD...Li DZ
|
36158048 |
2022 |
| 17 |
Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review.
62
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Pillai NR...Whitley CB
|
35893030 |
2022 |
| 18 |
The Core Splicing Factors EFTUD2, SNRPB and TXNL4A Are Essential for Neural Crest and Craniofacial Development.
62
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Park BY...Saint-Jeannet JP
|
35893124 |
2022 |
| 19 |
An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene.
62
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Ruscitti F...Divizia MT
|
35751431 |
2022 |
| 20 |
Spondylocostal dysplasia and brachydactyly associated with TBX6 and IHH variants: A case report.
62
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Puvabanditsin S...Mehta R
|
35846898 |
2022 |
| 21 |
Crouzon syndrome in a fraternal twin: A case report and review of the literature.
62
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Li XJ...Ye XW
|
35812652 |
2022 |
| 22 |
A de novo start-loss in EFTUD2 associated with mandibulofacial dysostosis with microcephaly: case report.
62
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Kohailan M...Fakhro K
|
35732499 |
2022 |
| 23 |
Binder's syndrome: A narrative review.
62
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Siddiqui HP...Duggal R
|
35654104 |
2022 |
| 24 |
A novel de novo missense mutation in EFTUD2 identified by whole-exome sequencing in mandibulofacial dysostosis with microcephaly.
62
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Yang M...Hu T
|
35435265 |
2022 |
| 25 |
Clinical and molecular delineation of mandibulofacial dysostosis with microcephaly in six Korean patients: When to consider EFTUD2 analysis?
62
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Ryu JH...Chae JH
|
35395430 |
2022 |
| 26 |
Hypertelorbitism Corrected by Facial Bipartition Improves Exotropia.
62
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Chen K...Bradley JP
|
35286295 |
2022 |
| 27 |
Paclitaxel use in pregnancy: neonatal follow-up of infants with positive detection of intact paclitaxel and metabolites in meconium at birth.
62
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Cardonick EH...Akoto S
|
35066626 |
2022 |
| 28 |
Vertebral segmentation defects in a Brazilian cohort: Clinical and molecular analysis focused on spondylocostal dysostosis.
62
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Linnenkamp B...Bertola D
|
35137400 |
2022 |
| 29 |
Further evidence for attenuated phenotype with variants in the BMPER gene causing DSD: Case report and literature review.
62
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Batey N...Balasubramanian M
|
35240322 |
2022 |
| 30 |
Successfully Managed Respiratory Insufficiency in a Patient with a Novel Pathogenic Variant of the BMPER Gene: A Case Report.
62
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Park HE...Shin YB
|
35328179 |
2022 |
| 31 |
Association between craniofacial anomalies, intellectual disability and autism spectrum disorder: Western Australian population-based study.
62
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Junaid M...Leonard H
|
35352007 |
2022 |
| 32 |
Correction of Midface Deficiency in Patient With Crouzon Syndrome by Orthognathic Surgery and Patient Specific Facial Implant: Case Report.
62
|
Ha SH...Choi JY
|
35385240 |
2022 |
| 33 |
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II.
62
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Agrawal N...Phadke SR
|
35144014 |
2022 |
| 34 |
Hunter Syndrome: The Phenotype of a Rare Storage Disease.
62
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Sousa Martins R...Ribeiro R
|
35282545 |
2022 |
| 35 |
Laminectomy as treatment for abrupt neurological decline in acrodysostosis: A case report.
62
|
Lee BJ...Martin M
|
36324970 |
2022 |
| 36 |
[Clinical case analysis and literature review of mandibulofacial dysostosis with microcephaly syndrome].
62
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Li X...Yuan Y
|
34979617 |
2022 |
| 37 |
Late-infantile GM1 gangliosidosis: A case report.
62
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Noh ES...Jin DK
|
35029890 |
2022 |
| 38 |
Brain MRI findings in mandibulofacial dysostosis caused by EFTUD2 haploinsufficiency: a case report with polymicrogyria and dysmorphic caudate nuclei.
62
|
Sa Silva J...Garrido C
|
34693919 |
2022 |
| 39 |
Microdeletion of 4p16.2 in Children: A Case Report and Literature Review.
62
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Qian Y...Zou C
|
35437470 |
2022 |
| 40 |
Monobloc Differential Distraction Osteogenesis.
62
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Polley JW...Dietze-Fiedler ML
|
34967523 |
2022 |
| 41 |
Robot-assisted frontofacial correction in very young children with craniofacial dysostosis syndromes: a technical note and early functional outcome.
62
|
Udayakumaran S...Subash P
|
34973669 |
2022 |
| 42 |
Fifteen years of enzyme replacement therapy for mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a case report.
62
|
Andrade I...Lourenco CM
|
35078524 |
2022 |
| 43 |
A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects.
62
|
Palagano E...Sobacchi C
|
34400385 |
2021 |
| 44 |
Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms.
62
|
da Rocha LA...Bertola DR
|
34341987 |
2021 |
| 45 |
Congenital Pseudarthrosis of the Tibia Associated With Cleidocranial Dysostosis: Case Report and Literature Review.
62
|
McClure PK...Herzenberg JE
|
34735385 |
2021 |
| 46 |
Eccentric Rotational Acetabular Osteotomy Using Computed Navigation Guidance for Developmental Dysplasia of the Hip, Sacroiliac Fusion, and Femoroacetabular Impingement Owing to Acetabular Retroversion: A Case Report.
62
|
Shimamura M...Yamamoto T
|
34549883 |
2021 |
| 47 |
Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series.
62
|
Inci A...Ezgu F
|
34666789 |
2021 |
| 48 |
Prenatal features of mandibulofacial dysostosis Guion-Almeida Type.
62
|
Dragoi V...Panaitescu AM
|
35027977 |
2021 |
| 49 |
[Genetic analysis of a rare fetus with mandibulofacial dysostosis Guion-Almeida type].
62
|
Yan L...Li H
|
34365627 |
2021 |
| 50 |
Fucosidosis in Tunisian patients: mutational analysis and homology-based modeling of FUCA1 enzyme.
62
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Chkioua L...Laradi S
|
34425818 |
2021 |
Rare bone diseases 
