1 |
An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects.
24
|
Fakhouri WD...Schutte BC
|
24442519 |
2014 |
2 |
Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development.
24
|
Peyrard-Janvid M...Schutte BC
|
24360809 |
2014 |
3 |
Search for genetic modifiers of IRF6 and genotype-phenotype correlations in Van der Woude and popliteal pterygium syndromes.
24
|
Leslie EJ...Murray JC
|
23949966 |
2013 |
4 |
Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus.
24
|
Mitchell K...Dixon MJ
|
22197488 |
2012 |
5 |
Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.
24
|
Kalay E...Akarsu NA
|
22197489 |
2012 |
6 |
Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.
24
|
Matsuzawa N...Yoshiura K
|
20803643 |
2010 |
7 |
Wound complications after cleft repair in children with Van der Woude syndrome.
24
|
Jones JL...Dunnwald M
|
20856020 |
2010 |
8 |
A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.
24
|
Beaty TH...Scott AF
|
20436469 |
2010 |
9 |
A heritable cause of cleft lip and palate--Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis.
24
|
Ferrero GB...Silengo MC
|
19536562 |
2010 |
10 |
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.
24
|
Desmyter L...Vikkula M
|
21045959 |
2010 |
11 |
Three novel mutations of the IRF6 gene with one associated with an unusual feature in Van der Woude syndrome.
24
|
Yeetong P...Shotelersuk V
|
19842205 |
2009 |
12 |
Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling.
24
|
Houweling AC...Lachmeijer AM
|
19623037 |
2009 |
13 |
Integration of IRF6 and Jagged2 signalling is essential for controlling palatal adhesion and fusion competence.
24
|
Richardson RJ...Dixon MJ
|
19439425 |
2009 |
14 |
Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done?
24
|
Jehee FS...Passos-Bueno MR
|
19449419 |
2009 |
15 |
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome.
24
|
de Lima RL...Schutte BC
|
19282774 |
2009 |
16 |
Association analysis between the IRF6 G820A polymorphism and nonsyndromic cleft lip and/or cleft palate in a Chinese population.
24
|
Tang W...Tian W
|
19115793 |
2009 |
17 |
Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip.
24
|
Rahimov F...Murray JC
|
18836445 |
2008 |
18 |
A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia.
24
|
de Medeiros F...Jakobsen LP
|
18478600 |
2008 |
19 |
Identification of IRF6 gene variants in three families with Van der Woude syndrome.
24
|
Tan EC...Yeow V
|
18506368 |
2008 |
20 |
Mutation screening in the IRF6-gene in patients with apparently nonsyndromic orofacial clefts and a positive family history suggestive of autosomal-dominant inheritance.
24
|
Birnbaum S...Mangold E
|
18247422 |
2008 |
21 |
Identification of novel candidate genes associated with cleft lip and palate using array comparative genomic hybridisation.
24
|
Osoegawa K...de Jong PJ
|
17873121 |
2008 |
22 |
A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome.
24
|
Brosch S...Pfister M
|
17549393 |
2007 |
23 |
Hydrocephalus and moderate mental retardation in a boy with Van der Woude phenotype and IRF6 gene mutation.
24
|
Zechi-Ceide RM...Passos-Bueno MR
|
17551329 |
2007 |
24 |
Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6).
24
|
Ingraham CR...Schutte BC
|
17041601 |
2006 |
25 |
Irf6 is a key determinant of the keratinocyte proliferation-differentiation switch.
24
|
Richardson RJ...Dixon MJ
|
17041603 |
2006 |
26 |
[Identification of three novel mutations of IRF6 in Chinese families with Van der Woude syndrome].
24
|
Du XY...Zheng XH
|
16456794 |
2006 |
27 |
Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome.
24
|
Peyrard-Janvid M...Kere J
|
16160700 |
2005 |
28 |
Identification of novel mutations of IRF6 gene in Chinese families with Van der Woude syndrome.
24
|
Ye XQ...Bian Z
|
16211254 |
2005 |
29 |
[IRF6 gene mutation analysis in a van Der Woude syndrome family in Henan province].
24
|
Wang XF...Kong XY
|
15995766 |
2005 |
30 |
Gene symbol: IRF6. Disease: Van der Woude syndrome.
24
|
Mostowska A...Trzeciak WH
|
15988826 |
2005 |
31 |
IRF-7 is the master regulator of type-I interferon-dependent immune responses.
24
|
Honda K...Taniguchi T
|
15800576 |
2005 |
32 |
Integral role of IRF-5 in the gene induction programme activated by Toll-like receptors.
24
|
Takaoka A...Taniguchi T
|
15665823 |
2005 |
33 |
Van Der Woude syndrome: variable penetrance of a novel mutation (p.Arg 84Gly) of the IRF6 gene in a Turkish family.
24
|
Item CB...Ewers R
|
15647839 |
2005 |
34 |
Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome.
24
|
Matsuzawa N...Niikawa N
|
15472655 |
2004 |
35 |
Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate.
24
|
Zucchero TM...Murray JC
|
15317890 |
2004 |
36 |
A novel mutation of the IRF6 gene in an Italian family with Van der Woude syndrome.
24
|
Gatta V...Stuppia L
|
15013698 |
2004 |
37 |
Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene.
24
|
Ghassibe M...Vikkula M
|
14757865 |
2004 |
38 |
Identification of two novel mutations of IRF6 in Korean families affected with Van der Woude syndrome.
24
|
Kim Y...Yoo HW
|
12964020 |
2003 |
39 |
Novel mutations in the IRF6 gene for Van der Woude syndrome.
24
|
Wang X...Kong X
|
12920575 |
2003 |
40 |
Complete sequencing shows a role for MSX1 in non-syndromic cleft lip and palate.
24
|
Jezewski PA...Murray JC
|
12807959 |
2003 |
41 |
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.
24
|
Dode C...Hardelin JP
|
12627230 |
2003 |
42 |
A novel mutation, 1234del(C), of the IRF6 in a Thai family with Van der Woude syndrome.
24
|
Shotelersuk V...Niikawa N
|
12632105 |
2003 |
43 |
Syngnathia and Van der Woude syndrome: a case report and literature review.
24
|
Puvabanditsin S...Biswas A
|
12498614 |
2003 |
44 |
Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion.
24
|
Kayano S...Matsubara Y
|
14618417 |
2003 |
45 |
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.
24
|
Kondo S...Murray JC
|
12219090 |
2002 |
46 |
Van der Woude syndrome with sensorineural hearing loss, large craniofacial sinuses, dental pulp stones, and minor limb anomalies: report of a four-generation Thai family.
24
|
Kantaputra PN...Tochareontanaphol C
|
11920830 |
2002 |
47 |
Signal transduction and the control of gene expression.
24
|
Brivanlou AH...Darnell JE
|
11823631 |
2002 |
48 |
Structure and function of IRF-7.
24
|
Zhang L...Pagano JS
|
11846980 |
2002 |
49 |
Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34.
24
|
Koillinen H...Kere J
|
11781685 |
2001 |
50 |
Genetic heterogeneity and exclusion of a modifying locus at 17p11.2-p11.1 in Finnish families with van der Woude syndrome.
24
|
Wong FK...Kere J
|
11303516 |
2001 |
51 |
IRF family of transcription factors as regulators of host defense.
24
|
Taniguchi T...Tanaka N
|
11244049 |
2001 |
52 |
Distinct and essential roles of transcription factors IRF-3 and IRF-7 in response to viruses for IFN-alpha/beta gene induction.
24
|
Sato M...Taniguchi T
|
11070172 |
2000 |
53 |
The IRF-3 transcription factor mediates Sendai virus-induced apoptosis.
24
|
Heylbroeck C...Hiscott J
|
10729153 |
2000 |
54 |
MSX1 mutation is associated with orofacial clefting and tooth agenesis in humans.
24
|
van den Boogaard MJ...van Amstel HK
|
10742093 |
2000 |
55 |
Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32.
24
|
Lees MM...Chitty L
|
10593995 |
1999 |
56 |
Lower lip pits and anorectal anomalies in Kabuki syndrome.
24
|
Kokitsu-Nakata NM...Guion-Almeida ML
|
10482881 |
1999 |
57 |
Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41.
24
|
Makita Y...Niikawa N
|
10482882 |
1999 |
58 |
Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome.
24
|
Schutte BC...Murray JC
|
10323740 |
1999 |
59 |
Conserved transactivation domain shared by interferon regulatory factors and Smad morphogens.
24
|
Eroshkin A...Mushegian A
|
10426188 |
1999 |
60 |
Maternal periconceptional alcohol consumption and risk for orofacial clefts.
24
|
Shaw GM...Lammer EJ
|
10064665 |
1999 |
61 |
The role of interferon regulatory factors in the interferon system and cell growth control.
24
|
Harada H...Tanaka N
|
9865486 |
1998 |
62 |
Virus-dependent phosphorylation of the IRF-3 transcription factor regulates nuclear translocation, transactivation potential, and proteasome-mediated degradation.
24
|
Lin R...Hiscott J
|
9566918 |
1998 |
63 |
Structure of IRF-1 with bound DNA reveals determinants of interferon regulation.
24
|
Escalante CR...Aggarwal AK
|
9422515 |
1998 |
64 |
Deregulation of MUM1/IRF4 by chromosomal translocation in multiple myeloma.
24
|
Iida S...Dalla-Favera R
|
9326949 |
1997 |
65 |
Clinical and epidemiologic studies of cleft lip and palate in the Philippines.
24
|
Murray JC...Magee W
|
9003905 |
1997 |
66 |
Requirement for the transcription factor LSIRF/IRF4 for mature B and T lymphocyte function.
24
|
Mittrucker HW...Mak TW
|
8999800 |
1997 |
67 |
Immunodeficiency and chronic myelogenous leukemia-like syndrome in mice with a targeted mutation of the ICSBP gene.
24
|
Holtschke T...Horak I
|
8861914 |
1996 |
68 |
Essential and non-redundant roles of p48 (ISGF3 gamma) and IRF-1 in both type I and type II interferon responses, as revealed by gene targeting studies.
24
|
Kimura T...Taniguchi T
|
9078371 |
1996 |
69 |
Variable expression of the popliteal pterygium syndrome in two 3-generation families.
24
|
Soekarman D...Fryns JP
|
7628117 |
1995 |
70 |
Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients.
24
|
Burke LW...Jones MC
|
7727492 |
1995 |
71 |
Evidence for a microdeletion in 1q32-41 involving the gene responsible for Van der Woude syndrome.
24
|
Sander A...Murray J
|
8069301 |
1994 |
72 |
Targeted disruption of IRF-1 or IRF-2 results in abnormal type I IFN gene induction and aberrant lymphocyte development.
24
|
Matsuyama T...Wakeham A
|
8402903 |
1993 |
73 |
Lower lip pits and complete idiopathic precocious puberty in a patient with Kabuki make-up (Niikawa-Kuroki) syndrome.
24
|
Franceschini P...Chiabotto P
|
8135293 |
1993 |
74 |
Anorectal anomalies associated with Kabuki make-up syndrome.
24
|
Matsumura M...Kuroki Y
|
1469590 |
1992 |
75 |
Syndrome delineation involving orofacial clefting.
24
|
Cohen MM...Bankier A
|
2004090 |
1991 |
76 |
Differential expression of TGF beta isoforms in murine palatogenesis.
24
|
Fitzpatrick DR...Akhurst RJ
|
2401212 |
1990 |
77 |
Popliteal pterygium syndrome.
24
|
Froster-Iskenius UG
|
2352260 |
1990 |
78 |
van der Woude syndrome in two families in China.
24
|
Burdick AB...Gao NN
|
3429616 |
1987 |
79 |
The Van der Woude syndrome (dominantly inherited lip pits and clefts).
24
|
Schinzel A...Klausler M
|
3746828 |
1986 |
80 |
Genetic epidemiology and control of genetic expression in van der Woude syndrome.
24
|
Burdick AB
|
3491128 |
1986 |
81 |
Genetic analysis in families with van der Woude syndrome.
24
|
Burdick AB...Puckett CL
|
4019732 |
1985 |
82 |
An incomplete form of the popliteal pterygium syndrome?
24
|
Leck GD...Aird JC
|
6595011 |
1984 |
83 |
Correlations of hypodontia in children with isolated cleft palate.
24
|
Ranta R...Rintala AE
|
6573982 |
1983 |
84 |
Correlations between microforms of the Van der Woude syndrome and cleft palate.
24
|
Ranta R...Rintala AE
|
6573981 |
1983 |
85 |
Lower lip sinuses: I. Epidemiology, microforms and transverse sulci.
24
|
Rintala AE...Ranta R
|
7459520 |
1981 |
86 |
The van der Woude syndrome in a large kindred: variability, penetrance, genetic risks.
24
|
Janku P...Edgerton MT
|
7395906 |
1980 |
87 |
The penetrance and variable expression of the Van der Woude syndrome: implications for genetic counseling.
24
|
Shprintzen RJ...Sidoti EJ
|
6928118 |
1980 |
88 |
Phenotypic variation in the popliteal pterygium syndrome.
24
|
Bixler D...Nance WE
|
4203060 |
1973 |
89 |
On sarcomas of the mandibular region.
24
|
Rintala A...Soivio A
|
5531996 |
1970 |
90 |
The syndrome of pits of the lower lip and cleft lip and/or palate. Genetic considerations.
24
|
Cervenka J...Anderson VE
|
6026934 |
1967 |
91 |
Congenital fistulas of the lower lip. A family case report.
24
|
Soricelli DA...Alexander WA
|
5218157 |
1966 |
92 |
Fistula labii inferioris congenita and its association with cleft lip and palate.
24
|
VAN DER WOUDE A
|
13158329 |
1954 |
93 |
Van der Woude and Popliteal Pterygium Syndromes: Broad intrafamilial variability in a three generation family with mutation in IRF6.
61
|
Busche A...Gillessen-Kaesbach G
|
27286731 |
2016 |
94 |
IRF6-Related Disorders
61
|
Schutte BC...Leslie E
|
20301581 |
2003 |