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Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
Known as:
MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE
, MFDM
, MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY
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National Institutes of Health
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Related topics
Related topics
16 relations
Atresia of the external auditory canal
Atrial Septal Defects
Autosomal dominant inheritance
Conductive hearing loss
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Broader (4)
Dysostoses
Intellectual Disability
Mandibulofacial Dysostosis
Microcephaly
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Novel De Novo EFTUD2 Mutations in 2 Cases With MFDM, Initially Suspected to Have Alternative Craniofacial Diagnoses
J. C. Lacour
,
Lori McBride
,
+5 authors
Y. Lacassie
The Cleft palate-craniofacial journal : official…
2019
Corpus ID: 53041243
We report 2 cases of mandibulofacial dysostosis with microcephaly (MFDM) with different and novel de novo mutations in the…
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Highly Cited
2017
Highly Cited
2017
The Fourier decomposition method for nonlinear and non-stationary time series analysis
Pushpendra Singh
,
S. Joshi
,
R. Patney
,
Kaushik Saha
Proceedings of the Royal Society A: Mathematical…
2017
Corpus ID: 2825358
for many decades, there has been a general perception in the literature that Fourier methods are not suitable for the analysis of…
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2017
2017
Mandibulofacial dysostosis with microcephaly成人の長期経過
岸本洋子
,
要匡
,
秦健一郎
,
松原洋一
,
小沢浩
2017
Corpus ID: 80497750
Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder that causes abnormalities of the head and face. People with…
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Review
2016
Review
2016
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update
Lijia Huang
,
M. Vanstone
,
+50 authors
M. Lines
Human mutation
2016
Corpus ID: 8071907
Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising microcephaly, craniofacial…
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2015
2015
Array‐CGH is an effective first‐tier diagnostic test for EFTUD2‐associated congenital mandibulofacial dysostosis with microcephaly
S. Gandomi
,
M. Parra
,
D. Reeves
,
V. Yap
,
C. Gau
Clinical genetics
2015
Corpus ID: 13668741
Mandibulofacial dysostosis with microcephaly (MFDM) is a sporadic malformation syndrome with severe craniofacial abnormalities…
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2014
2014
Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations
R. Śmigiel
,
Natalia Bezniakow
,
+4 authors
M. Sasiadek
Journal of Applied Genetics
2014
Corpus ID: 17909233
We present the phenotype of three unrelated Polish patients with MFD type Guion-Almeida confirmed by EFTUD2 mutations. In all of…
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2013
2013
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations
C. Voigt
,
A. Mégarbané
,
+21 authors
D. Wieczorek
Orphanet Journal of Rare Diseases
2013
Corpus ID: 1295466
BackgroundMutations in EFTUD2 were proven to cause a very distinct mandibulofacial dysostosis type Guion-Almeida (MFDGA, OMIM…
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Highly Cited
2012
Highly Cited
2012
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.
M. Lines
,
Lijia Huang
,
+24 authors
K. Boycott
American journal of human genetics
2012
Corpus ID: 45167516
Review
2012
Review
2012
Unified circuit modeling technique for the simulation of electrostatic discharge (ESD) injected by an ESD generator
T. Sekine
,
H. Asai
,
J. S. Lee
IEEE International Symposium on Electromagnetic…
2012
Corpus ID: 31604111
In this paper, we describe the modeling and simulation techniques of electrostatic discharge (ESD) events. First, the existing…
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2001
2001
Analysis of dielectric waveguides by a modified Fourier decomposition method with adaptive mapping parameters
J. G. Wanguemert-Perez
,
Í. Molina-Fernández
2001
Corpus ID: 5474390
The adaptive modified Fourier decomposition method (A-MFDM), a recently proposed technique to perform the modal analysis of…
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