Search details
1.
Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies.
Muscle Nerve
; 63(4): 516-524, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33389762
2.
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
Am J Med Genet A
; 173(10): 2763-2771, 2017 Oct.
Article
in English
| MEDLINE | ID: mdl-28777491
3.
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Science
; 384(6694): eadf5489, 2024 Apr 26.
Article
in English
| MEDLINE | ID: mdl-38662826
4.
The FGF and FGFR Gene Family and Risk of Cleft Lip With or Without Cleft Palate.
Cleft Palate Craniofac J
; 50(1): 96-103, 2013 Jan.
Article
in English
| MEDLINE | ID: mdl-22074045
5.
Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palate.
Genet Epidemiol
; 35(6): 469-78, 2011 Sep.
Article
in English
| MEDLINE | ID: mdl-21618603
6.
The effect of a Beare-Stevenson syndrome Fgfr2 Y394C mutation on early craniofacial bone volume and relative bone mineral density in mice.
J Anat
; 221(5): 434-42, 2012 Nov.
Article
in English
| MEDLINE | ID: mdl-22881429
7.
A framework for the evaluation of patients with congenital facial weakness.
Orphanet J Rare Dis
; 16(1): 158, 2021 04 07.
Article
in English
| MEDLINE | ID: mdl-33827624
8.
Genotype-Phenotype Correlation of Tracheal Cartilaginous Sleeves and Fgfr2 Mutations in Mice.
Laryngoscope
; 131(4): E1349-E1356, 2021 04.
Article
in English
| MEDLINE | ID: mdl-32886384
9.
Evidence of gene-environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate.
Hum Genet
; 128(4): 401-10, 2010 Oct.
Article
in English
| MEDLINE | ID: mdl-20652317
10.
Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations.
Am J Med Genet A
; 146A(18): 2327-31, 2008 Sep 15.
Article
in English
| MEDLINE | ID: mdl-18688869
11.
Integration of Brain and Skull in Prenatal Mouse Models of Apert and Crouzon Syndromes.
Front Hum Neurosci
; 11: 369, 2017.
Article
in English
| MEDLINE | ID: mdl-28790902
12.
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia.
Am J Med Genet
; 110(2): 95-102, 2002 Jun 15.
Article
in English
| MEDLINE | ID: mdl-12116245
13.
Frontal and caudate alterations in velocardiofacial syndrome (deletion at chromosome 22q11.2).
J Child Neurol
; 19(5): 337-42, 2004 May.
Article
in English
| MEDLINE | ID: mdl-15224707
14.
Evidence of gene-environment interaction for two genes on chromosome 4 and environmental tobacco smoke in controlling the risk of nonsyndromic cleft palate.
PLoS One
; 9(2): e88088, 2014.
Article
in English
| MEDLINE | ID: mdl-24516586
15.
Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome.
PLoS One
; 8(4): e60439, 2013.
Article
in English
| MEDLINE | ID: mdl-23593218
16.
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.
Nat Genet
; 42(6): 525-9, 2010 Jun.
Article
in English
| MEDLINE | ID: mdl-20436469
17.
Maternal transmission effects of the PAX genes among cleft case-parent trios from four populations.
Eur J Hum Genet
; 17(6): 831-9, 2009 Jun.
Article
in English
| MEDLINE | ID: mdl-19142206
18.
Developmental aspects of the upper airway: report from an NHLBI Workshop, March 5-6, 2009.
Proc Am Thorac Soc
; 6(6): 513-20, 2009 Sep 15.
Article
in English
| MEDLINE | ID: mdl-19741259
19.
Genetic and environmental risk factors for sagittal craniosynostosis.
J Craniofac Surg
; 13(5): 602-6, 2002 Sep.
Article
in English
| MEDLINE | ID: mdl-12218784
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