-
5
-
-
48649084693
-
Prenatal and postnatal management of omphalocele
-
Mann S, Blinman T, Douglas Wilson R: Prenatal and postnatal management of omphalocele. Prenat Diagn 2008; 28: 626-632.
-
(2008)
Prenat Diagn
, vol.28
, pp. 626-632
-
-
Mann, S.1
Blinman, T.2
Douglas Wilson, R.3
-
7
-
-
69249234781
-
Clinical application of microarray-based molecular cytogenetics: An emerging new era of genomic medicine
-
Li MM, Andersson HC: Clinical application of microarray-based molecular cytogenetics: an emerging new era of genomic medicine. J Pediatr 2009; 155: 311-317.
-
(2009)
J Pediatr
, vol.155
, pp. 311-317
-
-
Li, M.M.1
Andersson, H.C.2
-
8
-
-
0035990249
-
The Human Genome Project and the future of diagnostics, treatment and prevention
-
van Ommen GJ: The Human Genome Project and the future of diagnostics, treatment and prevention. J Inherit Metab Dis 2002; 25: 183-188.
-
(2002)
J Inherit Metab Dis
, vol.25
, pp. 183-188
-
-
Van Ommen, G.J.1
-
9
-
-
68849095265
-
Generation and functional characterization of mice with a conditional BMP7 allele
-
Zouvelou V, Passa O, Segklia K et al: Generation and functional characterization of mice with a conditional BMP7 allele. Int J Dev Biol 2009; 53: 597-603.
-
(2009)
Int J Dev Biol
, vol.53
, pp. 597-603
-
-
Zouvelou, V.1
Passa, O.2
Segklia, K.3
-
10
-
-
0036225320
-
The cloacal plate: The missing link in anorectal and urogenital development
-
Penington EC, Hutson JM: The cloacal plate: the missing link in anorectal and urogenital development. BJU Int 2002; 89: 726-732.
-
(2002)
BJU Int
, vol.89
, pp. 726-732
-
-
Penington, E.C.1
Hutson, J.M.2
-
11
-
-
0035199253
-
Hypospadias and endocrine disruption: Is there a connection?
-
Baskin LS, Himes K, Colborn T: Hypospadias and endocrine disruption: is there a connection? Environ Health Perspect 2001; 109: 1175-1183.
-
(2001)
Environ Health Perspect
, vol.109
, pp. 1175-1183
-
-
Baskin, L.S.1
Himes, K.2
Colborn, T.3
-
12
-
-
70450159800
-
Temporal and spatial dissection of Shh signaling in genital tubercle development
-
Lin C, Yin Y, Veith GM, Fisher AV, Long F, Ma L: Temporal and spatial dissection of Shh signaling in genital tubercle development. Development 2009; 136: 3959-3967.
-
(2009)
Development
, vol.136
, pp. 3959-3967
-
-
Lin, C.1
Yin, Y.2
Veith, G.M.3
Fisher, A.V.4
Long, F.5
Ma, L.6
-
13
-
-
66449130445
-
Genetic interactions of the androgen and Wnt/beta-catenin pathways for the masculinization of external genitalia
-
Miyagawa S, Satoh Y, Haraguchi R et al: Genetic interactions of the androgen and Wnt/beta-catenin pathways for the masculinization of external genitalia. Mol Endocrinol 2009; 23: 871-880.
-
(2009)
Mol Endocrinol
, vol.23
, pp. 871-880
-
-
Miyagawa, S.1
Satoh, Y.2
Haraguchi, R.3
-
14
-
-
33847383712
-
Molecular analysis of coordinated bladder and urogenital organ formation by Hedgehog signaling
-
Haraguchi R, Motoyama J, Sasaki H et al: Molecular analysis of coordinated bladder and urogenital organ formation by Hedgehog signaling. Development 2007; 134: 525-533.
-
(2007)
Development
, vol.134
, pp. 525-533
-
-
Haraguchi, R.1
Motoyama, J.2
Sasaki, H.3
-
15
-
-
70450181790
-
Dosage-dependent hedgehog signals integrated with Wnt/beta-catenin signaling regulate external genitalia formation as an appendicular program
-
Miyagawa S, Moon A, Haraguchi R et al: Dosage-dependent hedgehog signals integrated with Wnt/beta-catenin signaling regulate external genitalia formation as an appendicular program. Development 2009; 136: 3969-3978.
-
(2009)
Development
, vol.136
, pp. 3969-3978
-
-
Miyagawa, S.1
Moon, A.2
Haraguchi, R.3
-
16
-
-
79959392823
-
The role of sonic hedgehog-Gli2 pathway in the masculinization of external genitalia
-
Miyagawa S, Matsumaru D, Murashima A et al: The role of sonic hedgehog-Gli2 pathway in the masculinization of external genitalia. Endocrinology 2011; 152: 2894-2903.
-
(2011)
Endocrinology
, vol.152
, pp. 2894-2903
-
-
Miyagawa, S.1
Matsumaru, D.2
Murashima, A.3
-
17
-
-
0035160112
-
Unique functions of Sonic hedgehog signaling during external genitalia development
-
Haraguchi R, Mo R, Hui C et al: Unique functions of Sonic hedgehog signaling during external genitalia development. Development 2001; 128: 4241-4250.
-
(2001)
Development
, vol.128
, pp. 4241-4250
-
-
Haraguchi, R.1
Mo, R.2
Hui, C.3
-
18
-
-
70450181794
-
Multiphasic and tissue-specific roles of sonic hedgehog in cloacal septation and external genitalia development
-
Seifert AW, Bouldin CM, Choi KS, Harfe BD, Cohn MJ: Multiphasic and tissue-specific roles of sonic hedgehog in cloacal septation and external genitalia development. Development 2009; 136: 3949-3957.
-
(2009)
Development
, vol.136
, pp. 3949-3957
-
-
Seifert, A.W.1
Bouldin, C.M.2
Choi, K.S.3
Harfe, B.D.4
Cohn, M.J.5
-
19
-
-
78651229757
-
Common variants in DGKK are strongly associated with risk of hypospadias
-
van der Zanden LF, van Rooij IA, Feitz WF et al: Common variants in DGKK are strongly associated with risk of hypospadias. Nat Genet 2011; 43: 48-50.
-
(2011)
Nat Genet
, vol.43
, pp. 48-50
-
-
Van Der Zanden, L.F.1
Van Rooij, I.A.2
Feitz, W.F.3
-
20
-
-
0030782397
-
Polydactyly and ectopic ZPA formation in Alx-4 mutant mice
-
Qu S, Niswender KD, Ji Q et al: Polydactyly and ectopic ZPA formation in Alx-4 mutant mice. Development 1997; 124: 3999-4008.
-
(1997)
Development
, vol.124
, pp. 3999-4008
-
-
Qu, S.1
Niswender, K.D.2
Ji, Q.3
-
21
-
-
0034754798
-
Severe nasal clefting and abnormal embryonic apoptosis in Alx3/Alx4 double mutant mice
-
Beverdam A, Brouwer A, Reijnen M, Korving J, Meijlink F: Severe nasal clefting and abnormal embryonic apoptosis in Alx3/Alx4 double mutant mice. Development 2001; 128: 3975-3986.
-
(2001)
Development
, vol.128
, pp. 3975-3986
-
-
Beverdam, A.1
Brouwer, A.2
Reijnen, M.3
Korving, J.4
Meijlink, F.5
-
22
-
-
0033759656
-
Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous genedeletion syndrome
-
Wu YQ, Badano JL, McCaskill C, Vogel H, Potocki L, Shaffer LG: Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous genedeletion syndrome. Am J Hum Genet 2000; 67: 1327-1332.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1327-1332
-
-
Wu, Y.Q.1
Badano, J.L.2
McCaskill, C.3
Vogel, H.4
Potocki, L.5
Shaffer, L.G.6
-
23
-
-
0034530307
-
The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500)
-
Wuyts W, Cleiren E, Homfray T, Rasore-Quartino A, Vanhoenacker F, Van Hul W: The ALX4 homeobox gene is mutated in patients with ossification defects of the skull (foramina parietalia permagna, OMIM 168500). J Med Genet 2000; 37: 916-920.
-
(2000)
J Med Genet
, vol.37
, pp. 916-920
-
-
Wuyts, W.1
Cleiren, E.2
Homfray, T.3
Rasore-Quartino, A.4
Vanhoenacker, F.5
Van Hul, W.6
-
24
-
-
84355161396
-
Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations
-
Kayserili H, Altunoglu U, Ozgur H, Basaran S, Uyguner ZO: Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations. Am J Med Genet A 2012; 158A: 236-244.
-
(2012)
Am J Med Genet A
, vol.158
, pp. 236-244
-
-
Kayserili, H.1
Altunoglu, U.2
Ozgur, H.3
Basaran, S.4
Uyguner, Z.O.5
-
25
-
-
70350671697
-
ALX4 dysfunction disrupts craniofacial and epidermal development
-
Kayserili H, Uz E, Niessen C et al: ALX4 dysfunction disrupts craniofacial and epidermal development. Hum Mol Genet 2009; 18: 4357-4366.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 4357-4366
-
-
Kayserili, H.1
Uz, E.2
Niessen, C.3
-
26
-
-
0031875540
-
Mutations in mouse Aristaless-like4 cause Strong's luxoid polydactyly
-
Qu S, Tucker SC, Ehrlich JS et al: Mutations in mouse Aristaless-like4 cause Strong's luxoid polydactyly. Development 1998; 125: 2711-2721.
-
(1998)
Development
, vol.125
, pp. 2711-2721
-
-
Qu, S.1
Tucker, S.C.2
Ehrlich, J.S.3
-
27
-
-
0031672928
-
The role of Alx-4 in the establishment of anteroposterior polarity during vertebrate limb development
-
Takahashi M, Tamura K, Buscher D et al: The role of Alx-4 in the establishment of anteroposterior polarity during vertebrate limb development. Development 1998; 125: 4417-4425.
-
(1998)
Development
, vol.125
, pp. 4417-4425
-
-
Takahashi, M.1
Tamura, K.2
Buscher, D.3
-
28
-
-
79251602124
-
Genetic analysis of hedgehog signaling in ventral body wall development and the onset of omphalocele formation
-
Matsumaru D, Haraguchi R, Miyagawa S, Motoyama J, Nakagata N, Sham MH: Genetic analysis of hedgehog signaling in ventral body wall development and the onset of omphalocele formation. PLoS ONE 2011; 6: 1307-1321.
-
(2011)
PLoS ONE
, vol.6
, pp. 1307-1321
-
-
Matsumaru, D.1
Haraguchi, R.2
Miyagawa, S.3
Motoyama, J.4
Nakagata, N.5
Sham, M.H.6
-
29
-
-
0029777408
-
Cyclopia and defective axial patterning in mice lacking sonic hedgehog gene function
-
Chiang C, Litingtung Y, Lee E et al: Cyclopia and defective axial patterning in mice lacking sonic hedgehog gene function. Nature 1996; 383: 407-413.
-
(1996)
Nature
, vol.383
, pp. 407-413
-
-
Chiang, C.1
Litingtung, Y.2
Lee, E.3
-
30
-
-
0027478216
-
A mouse model of greig cephalopolysyndactyly syndrome: The extratoesJ mutation contains an intragenic deletion of the Gli3 gene
-
Hui CC, Joyner AL: A mouse model of greig cephalopolysyndactyly syndrome: the extratoesJ mutation contains an intragenic deletion of the Gli3 gene. Nat Genet 1993; 3: 241-246.
-
(1993)
Nat Genet
, vol.3
, pp. 241-246
-
-
Hui, C.C.1
Joyner, A.L.2
-
31
-
-
0037090881
-
Efficient recombination in diverse tissues by a tamoxifeninducible form of Cre: A tool for temporally regulated gene activation/inactivation in the mouse
-
Hayashi S, McMahon AP: Efficient recombination in diverse tissues by a tamoxifeninducible form of Cre: a tool for temporally regulated gene activation/inactivation in the mouse. Dev Biol 2002; 244: 305-318.
-
(2002)
Dev Biol
, vol.244
, pp. 305-318
-
-
Hayashi, S.1
McMahon, A.P.2
-
32
-
-
33750543972
-
A novel somatic mouse model to survey tumorigenic potential applied to the Hedgehog pathway
-
Mao J, Ligon KL, Rakhlin EY et al: A novel somatic mouse model to survey tumorigenic potential applied to the Hedgehog pathway. Cancer Res 2006; 66: 10171-10178.
-
(2006)
Cancer Res
, vol.66
, pp. 10171-10178
-
-
Mao, J.1
Ligon, K.L.2
Rakhlin, E.Y.3
-
33
-
-
4644367927
-
Requirement for Mab21l2 during development of murine retina and ventral body wall
-
Yamada R, Mizutani-Koseki Y, Koseki H, Takahashi N: Requirement for Mab21l2 during development of murine retina and ventral body wall. Dev Biol 2004; 274: 295-307.
-
(2004)
Dev Biol
, vol.274
, pp. 295-307
-
-
Yamada, R.1
Mizutani-Koseki, Y.2
Koseki, H.3
Takahashi, N.4
-
34
-
-
1942466507
-
Hedgehog signaling in the neural crest cells regulates the patterning and growth of facial primordia
-
Jeong J, Mao J, Tenzen T, Kottmann AH, McMahon AP: Hedgehog signaling in the neural crest cells regulates the patterning and growth of facial primordia. Genes Dev 2004; 18: 937-951.
-
(2004)
Genes Dev
, vol.18
, pp. 937-951
-
-
Jeong, J.1
Mao, J.2
Tenzen, T.3
Kottmann, A.H.4
McMahon, A.P.5
-
35
-
-
1542297350
-
Loss of AP-2alpha impacts multiple aspects of ventral body wall development and closure
-
Brewer S, Williams T: Loss of AP-2alpha impacts multiple aspects of ventral body wall development and closure. Dev Biol 2004; 267: 399-417.
-
(2004)
Dev Biol
, vol.267
, pp. 399-417
-
-
Brewer, S.1
Williams, T.2
-
36
-
-
0029932086
-
Transcription factor AP-2 essential for cranial closure and craniofacial development
-
Schorle H, Meier P, Buchert M, Jaenisch R, Mitchell P: Transcription factor AP-2 essential for cranial closure and craniofacial development. Nature 1996; 381: 235-238.
-
(1996)
Nature
, vol.381
, pp. 235-238
-
-
Schorle, H.1
Meier, P.2
Buchert, M.3
Jaenisch, R.4
Mitchell, P.5
-
37
-
-
0029932525
-
Neural tube, skeletal and body wall defects in mice lacking transcription factor AP-2
-
Zhang J, Hagopian-Donaldson S, Serbedzija G et al: Neural tube, skeletal and body wall defects in mice lacking transcription factor AP-2. Nature 1996; 381: 238-241.
-
(1996)
Nature
, vol.381
, pp. 238-241
-
-
Zhang, J.1
Hagopian-Donaldson, S.2
Serbedzija, G.3
-
38
-
-
25844463577
-
Function and regulation of Alx4 in limb development: Complex genetic interactions with Gli3 and Shh
-
Kuijper S, Feitsma H, Sheth R, Korving J, Reijnen M, Meijlink F: Function and regulation of Alx4 in limb development: complex genetic interactions with Gli3 and Shh. Dev Biol 2005; 285: 533-544.
-
(2005)
Dev Biol
, vol.285
, pp. 533-544
-
-
Kuijper, S.1
Feitsma, H.2
Sheth, R.3
Korving, J.4
Reijnen, M.5
Meijlink, F.6
-
39
-
-
23044510559
-
Genetic interaction of Gli3 and Alx4 during limb development
-
Panman L, Drenth T, Tewelscher P, Zuniga A, Zeller R: Genetic interaction of Gli3 and Alx4 during limb development. Int J Dev Biol 2005; 49: 443-448.
-
(2005)
Int J Dev Biol
, vol.49
, pp. 443-448
-
-
Panman, L.1
Drenth, T.2
Tewelscher, P.3
Zuniga, A.4
Zeller, R.5
-
40
-
-
0035504214
-
Ptc1 and Ptc2 transcripts provide distinct readouts of Hedgehog signaling activity during chick embryogenesis
-
Pearse RV, Vogan KJ, Tabin CJ: Ptc1 and Ptc2 transcripts provide distinct readouts of Hedgehog signaling activity during chick embryogenesis. Dev Biol 2001; 239: 15-29.
-
(2001)
Dev Biol
, vol.239
, pp. 15-29
-
-
Pearse, R.V.1
Vogan, K.J.2
Tabin, C.J.3
-
41
-
-
0032126734
-
Transducing hedgehog: The story so far
-
Ingham PW: Transducing hedgehog: the story so far. EMBO J 1998; 17: 3505-3511.
-
(1998)
EMBO J
, vol.17
, pp. 3505-3511
-
-
Ingham, P.W.1
-
42
-
-
79251525845
-
Measurement of the fetal umbilical cord insertion-to-genital tubercle length in early gestation: In utero sonographic study
-
Gilboa Y, Katorza E, Kedem A, Spira M, Achiron R: Measurement of the fetal umbilical cord insertion-to-genital tubercle length in early gestation: in utero sonographic study. J Ultrasound Med 2011; 30: 237-241.
-
(2011)
J Ultrasound Med
, vol.30
, pp. 237-241
-
-
Gilboa, Y.1
Katorza, E.2
Kedem, A.3
Spira, M.4
Achiron, R.5
-
43
-
-
0037107551
-
Fibronectin at a glance
-
Pankov R, Yamada KM: Fibronectin at a glance. J Cell Sci 2002; 115: 3861-3863.
-
(2002)
J Cell Sci
, vol.115
, pp. 3861-3863
-
-
Pankov, R.1
Yamada, K.M.2
-
44
-
-
18544409648
-
Molecular analysis of external genitalia formation: The role of fibroblast growth factor (Fgf) genes during genital tubercle formation
-
Haraguchi R, Suzuki K, Murakami R et al: Molecular analysis of external genitalia formation: the role of fibroblast growth factor (Fgf) genes during genital tubercle formation. Development 2000; 127: 2471-2479.
-
(2000)
Development
, vol.127
, pp. 2471-2479
-
-
Haraguchi, R.1
Suzuki, K.2
Murakami, R.3
-
45
-
-
0028033777
-
Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis)
-
Fisher SE, Black GC, Lloyd SE et al: Isolation and partial characterization of a chloride channel gene which is expressed in kidney and is a candidate for Dent's disease (an X-linked hereditary nephrolithiasis). Hum Mol Genet 1994; 3: 2053-2059.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 2053-2059
-
-
Fisher, S.E.1
Black, G.C.2
Lloyd, S.E.3
-
46
-
-
0033557807
-
Role of the Bicoid-related homeodomain factor Pitx1 in specifying hindlimb morphogenesis and pituitary development
-
Szeto DP, Rodriguez-Esteban C, Ryan AK et al: Role of the Bicoid-related homeodomain factor Pitx1 in specifying hindlimb morphogenesis and pituitary development. Genes Dev 1999; 13: 484-494.
-
(1999)
Genes Dev
, vol.13
, pp. 484-494
-
-
Szeto, D.P.1
Rodriguez-Esteban, C.2
Ryan, A.K.3
-
47
-
-
84869083654
-
ALX4 gain-of-function mutations in nonsyndromic craniosynostosis
-
Yagnik G, Ghuman A, Kim S et al: ALX4 gain-of-function mutations in nonsyndromic craniosynostosis. Hum Mutat 2012; 33: 1626-1629.
-
(2012)
Hum Mutat
, vol.33
, pp. 1626-1629
-
-
Yagnik, G.1
Ghuman, A.2
Kim, S.3
-
48
-
-
19144373472
-
Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11
-
Bartsch O, Wuyts W, Van Hul W et al: Delineation of a contiguous gene syndrome with multiple exostoses, enlarged parietal foramina, craniofacial dysostosis, and mental retardation, caused by deletions in the short arm of chromosome 11. Am J Hum Genet 1996; 58: 734-742.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 734-742
-
-
Bartsch, O.1
Wuyts, W.2
Van Hul, W.3
-
49
-
-
84872402412
-
Genome-wide copy number variation study in anorectal malformations
-
Wong EH, Cui L, Ng CL et al: Genome-wide copy number variation study in anorectal malformations. Hum Mol Genet 2013; 22: 621-631.
-
(2013)
Hum Mol Genet
, vol.22
, pp. 621-631
-
-
Wong, E.H.1
Cui, L.2
Ng, C.L.3
-
50
-
-
33750701826
-
Aristaless-like homeobox-4 gene methylation is a potential marker for colorectal adenocarcinomas
-
Ebert MP, Model F, Mooney S et al: Aristaless-like homeobox-4 gene methylation is a potential marker for colorectal adenocarcinomas. Gastroenterology 2006; 131: 1418-1430.
-
(2006)
Gastroenterology
, vol.131
, pp. 1418-1430
-
-
Ebert, M.P.1
Model, F.2
Mooney, S.3
-
51
-
-
0037376010
-
In vitro fertilization and the cloacal-bladder exstrophy-epispadias complex: Is there an association?
-
Wood HM, Trock BJ, Gearhart JP: In vitro fertilization and the cloacal-bladder exstrophy-epispadias complex: is there an association? J Urol 2003; 169: 1512-1515.
-
(2003)
J Urol
, vol.169
, pp. 1512-1515
-
-
Wood, H.M.1
Trock, B.J.2
Gearhart, J.P.3
|