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1 Meckel diverticula occur so infrequently that most artic
2 Meckel syndrome (MKS) is a lethal disorder associated wi
3 Meckel syndrome (MKS) is a lethal disorder characterized
4 Meckel syndrome (MKS) is a rare autosomal recessive dise
5 Meckel syndrome (MKS) is an embryonic lethal, autosomal
6 Meckel-Gruber syndrome (MKS) is a genetically heterogene
7 Meckel-Gruber syndrome (MKS) is an autosomal recessive l
8 Meckel-Gruber syndrome (MKS) is an embryonic lethal cili
9 Meckel-Gruber syndrome (MKS), nephronophthisis (NPHP), a
10 Meckel-Gruber syndrome (MKS), nephronophthisis (NPHP), a
11 Meckel-Gruber syndrome is a severe autosomal, recessivel
12 Meckel-Gruber syndrome type 3 (MKS3; OMIM 607361) is a s
13 onstrate that IFT particle components, and a Meckel-Gruber syndrome 1 (MKS1)-related, B9 domain prote
14 re reviewed of 1476 patients found to have a Meckel diverticulum during surgery from 1950 to 2002.
16 pport nor reject the recommendation that all Meckel diverticula found incidentally should be removed,
18 mutations in human Fritz to Bardet-Biedl and Meckel-Gruber syndromes, a notable link given that other
21 kidney disease and retinal degeneration, and Meckel-Gruber syndrome (MKS), a gestational lethal condi
23 GRIP1L, a gene mutated in Joubert (JBTS) and Meckel (MKS) syndromes, two severe forms of ciliopathy,
24 Nephronophthisis (NPHP), Joubert (JBTS), and Meckel-Gruber (MKS) syndromes are autosomal-recessive ci
25 CEP290/NPHP6 is associated with Joubert and Meckel syndromes, whereas hypomorphic mutations result i
27 as growth in the brain, limb buds, nose and Meckel's cartilage, remodeling of the intestine, and dea
28 Joubert syndrome, Bardet-Biedl syndrome and Meckel-Gruber syndrome, all of which have pronounced neu
29 nts affected by severe ciliopathies, such as Meckel syndrome, present several ocular surface disease
30 sformation of first arch cartilages, such as Meckel's and the quadrate, into second arch elements, su
31 in phenotype for allelic conditions such as Meckel-Gruber syndrome (MKS) and Joubert syndrome (JBTS)
32 hibit phenotypes reminiscent of Bardet-Biedl/Meckel-Gruber ciliopathy syndromes, including cardiac ou
36 to harbour two functional modules/complexes (Meckel syndrome [MKS] and Nephronophthisis [NPHP]) defin
37 describe the importance of the TZ component Meckel-Gruber syndrome 6 ( Mks6) in several organ system
39 y domain at E10.5 and subsequently developed Meckel's cartilage-like cartilage rods bilaterally at th
41 the maxillae into mandibles with duplicated Meckel's cartilage, which resulted in an absence of the
43 mpty sella, 47 patients (15.9%) had enlarged Meckel caves, 32 patients (10.8%) had increased periopti
44 inal fluid, optic nerve tortuosity, enlarged Meckel caves, cephaloceles, cerebellar tonsillar descent
46 gy and ciliary function in a mouse model for Meckel Syndrome Type 3 (MKS3) throughout the course of p
48 Mayo Clinic experience with patients who had Meckel diverticulum, we sought to determine which divert
49 ve mesodermal interactions could explain how Meckel's diverticula express diverse non-intestinal, end
52 ntum, periodontal ligaments, chondrocytes in Meckel's cartilage, mandible, the articulating disc of t
54 TGF rescues the cell proliferation defect in Meckel's cartilage of Tgfbr2(fl/fl);Wnt1-Cre mutants, de
55 nsmembrane protein 67 (TMEM67) is mutated in Meckel Gruber Syndrome type 3 (MKS3) resulting in a plei
56 g protein-1 like), a ciliary gene mutated in Meckel-Gruber (MKS) and Joubert (JBTS) syndromes, is ass
57 ansmembrane receptor meckelin, is mutated in Meckel-Gruber syndrome (MKS), an autosomal-recessive cil
58 odule of transition zone proteins mutated in Meckel-Gruber syndrome (MKS), including Cep290, Mks1, B9
59 cifically required for cell proliferation in Meckel's cartilage and the mandibular anlagen and for th
61 taken, we recommend removing all incidental Meckel diverticula that have any of the 4 features most
63 cilia-related syndromic disorders including Meckel-Gruber syndrome, Joubert syndrome, Senor-Loken sy
64 ially nephronophthisis) syndromes, including Meckel/Joubert-like and oral-facial-digital syndrome, ca
66 onophthisis (NPHP), Joubert syndrome (JBTS), Meckel-Gruber syndrome (MKS), and Bardet-Biedl syndrome
68 syndromes including nephronophthisis (NPHP), Meckel-Gruber syndrome (MKS), Joubert syndrome (JBTS), a
73 signaling is required for the elongation of Meckel's cartilage and FGFR2 and FGFR3 have roles during
74 that appear to represent murine examples of Meckel's Diverticulum, a congenital abnormality in human
75 , palatal clefting results from a failure of Meckel's cartilage to extend the mandible and thereby al
76 2a(-/-) mouse that recapitulates features of Meckel syndrome including embryonic lethality and multio
78 abnormalities including the complete loss of Meckel's cartilage, the ceratohyal, and all of the cerat
79 at HH26 did not affect the morphogenesis of Meckel's cartilage but resulted in truncations of the ma
83 e strongly expressed in the perichondrium of Meckel's cartilage and mesenchymal areas of embryonic da
86 lies in proximity to the critical regions of Meckel-Gruber syndrome 2 (MKS2) and Joubert syndrome 2 (
88 er-dental mesenchyme and distal symphysis of Meckel's cartilage became hypoplastic, resulting in the
90 t has molariform tooth replacement, ossified Meckel's cartilage of the middle ear, and specialized xe
91 dentary bone but still connect the ossified Meckel's cartilage (OMC); we hypothesize that the OMC se
92 ular, have no bone contact with the ossified Meckel's cartilage; the latter is loosely lodged on the
93 between the palatoquadrate and proximal part Meckel's cartilage (articular) has recently been shown t
94 uals with a consistent ciliopathy phenotype (Meckel-Gruber syndrome) and a functional effect of its d
97 ing from Joubert syndrome to the more severe Meckel-Gruber syndrome with perinatal lethality and occi
98 hx4 LoF variants, have significantly shorter Meckel's cartilage and smaller ethmoid plates compared t
100 al crest cell-derived mesenchyme surrounding Meckel's cartilage and in the palatal shelves in Med23(f
102 es most commonly associated with symptomatic Meckel diverticula were patient age younger than 50 year
105 connected with oral-facial-digital syndrome, Meckel-Gruber syndrome, and Joubert syndrome exhibiting
106 llar abnormalities such as Joubert syndrome, Meckel-Gruber syndrome, Bardet-Biedl syndrome, and Orofa
107 sive PKD (ARPKD); and the lethal, syndromic, Meckel syndrome that also includes central nervous syste
111 tary(7-12) and the eventual breakdown of the Meckel's cartilage(13-15) during the evolution of mammal
112 nterestingly, one of them is a member of the Meckel-Gruber syndrome factors, associated with human ci
114 of this locus has been previously linked to Meckel syndrome; the phenotype includes postaxial polyda
117 ith other anomalies, such as patent urachus, Meckel's diverticulum, mesenteric cyst, and accessory pa
118 multiple ciliopathy proteins associated with Meckel and Joubert syndromes, including Mks1, Tmem216, T
119 CEP290 mutations are also associated with Meckel-Gruber syndrome and Bardet-Biedl syndrome (BBS).