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Volumn 19, Issue 4, 2002, Pages 421-422

Prenatal sonographic diagnosis of median facial cleft should alert holoprosencephaly with premaxillary agenesis and prompt genetic investigations [5]

(1) Chen, C P a

a NATIONAL YANG MING UNIVERSITY (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

AGENESIS; ANEUPLOIDY; BRAIN MALFORMATION; CHROMOSOME ABERRATION; CLEFT FACE; CLEFT LIP; CLEFT PALATE; CLINICAL FEATURE; CYCLOPIA; DISEASE ASSOCIATION; ENVIRONMENTAL FACTOR; FETUS ECHOGRAPHY; FETUS MALFORMATION; FETUS OUTCOME; FOREBRAIN; GENE LOCUS; GENE MUTATION; GENE TRANSLOCATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; HEREDITY; HETEROZYGOTE; HOLOPROSENCEPHALY; HUMAN; KARYOTYPE 46,XX; LETTER; MAXILLA; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RECURRENCE RISK; SYNDROME; TRISOMY 13; TRISOMY 18;

EID: 0036268049 PISSN: 09607692 EISSN: None Source Type: Journal
DOI: 10.1046/j.1469-0705.2002.00533_5.x Document Type: Letter

Times cited : (5)

References (17)

1
- 0035161952
- Fetal cleft lip and palate: Sonographic diagnosis, chromosomal abnormalities, associated anomalies and postnatal outcome in 70 fetuses
- (2001) Ultrasound Obstet Gynecol , vol.18 , pp. 422-431
- Bergé, S.J.¹ Plath, H.² Van de Vondel, P.T.³ Appel, T.⁴ Niederhagen, B.⁵ Von Lindern, J.J.⁶ Reich, R.H.⁷ Hansmann, M.⁸

2
- 0031821546
- Holoprosencephaly: A paradigm for the complex genetics of brain development
- (1998) J Inherit Metab Dis , vol.21 , pp. 481-497
- Roessler, E.¹ Muenke, M.²

3
- 0011977665
- Holoprosencephaly as a genetic model to study normal craniofacial development
- (1994) Semin Dev Biol , vol.5 , pp. 293-301
- Muenke, M.¹

4
- 0034107360
- Genetics of ventral forebrain development and holoprosencephaly
- (2000) Curr Opin Genet Dev , vol.10 , pp. 262-269
- Muenke, M.¹ Beachy, P.A.²

5
- 0028787577
- Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome
- (1995) Am J Hum Genet , vol.57 , pp. 1074-1079
- Muenke, M.¹ Bone, L.J.² Mitchell, H.F.³ Hart, I.⁴ Walton, K.⁵ Hall-Johnson, K.⁶ Ippel, E.F.⁷ Dietz-Band, J.⁸ Kvaloy, K.⁹ Fan, C.-M.¹⁰ Tessier-Lavigne, M.¹¹ Patterson, D.¹²

6
- 9044223649
- Molecular characterization of breakpoints in patients with holoprosencephaly and definition of the HPE2 critical region 2p21
- (1996) Hum Mol Genet , vol.5 , pp. 223-229
- Schell, U.¹ Wienberg, J.² Köhler, A.³ Bray-Ward, P.⁴ Ward, D.E.⁵ Wilson, W.G.⁶ Allen, W.P.⁷ Lebel, R.R.⁸ Sawyer, J.R.⁹ Campbell, P.L.¹⁰ Aughton, D.J.¹¹ Punnett, H.H.¹² Lammer, E.J.¹³ Kao, F.-T.¹⁴ Ward, D.C.¹⁵ Muenke, M.¹⁶

7
- 0027477150
- Physical mapping of holoprosencephaly critical region of chromosome 7q36
- (1993) Nat Genet , vol.3 , pp. 247-251
- Gurrieri, F.¹ Trask, B.J.² Van den Engh, G.³ Krauss, C.M.⁴ Schinzel, A.⁵ Petttenati, M.J.⁶ Schindler, D.⁷ Dietz-Band, J.⁸ Vergnaud, G.⁹ Scherer, S.W.¹⁰ Tsui, L.-C.¹¹ Muenke, M.¹²

8
- 0028889260
- Physical mapping of the holoprosencephaly critical region in 18p11.3
- (1995) Am J Hum Genet , vol.57 , pp. 1080-1085
- Overhauser, J.¹ Mitchell, H.F.² Zackai, E.H.³ Tick, D.B.⁴ Rojas, K.⁵ Muenke, M.⁶

9
- 0001357330
- A small deletion in the putative 'critical region' in chromosome 13q32 in a fetus with isolated holoprosencephaly
- (1995) Am J Hum Genet , vol.57
- Brown, S.A.¹ Jackey, P.E.² Lien, J.M.³ Warburton, D.⁴

10
- 0030837885
- Cytogenetic rearrangements involving the loss of the Sonic Hedgehog gene at 7q36 cause holoprosencephaly
- (1997) Hum Genet , vol.100 , pp. 172-181
- Roessler, E.¹ Ward, D.E.² Gaudenz, K.³ Belloni, E.⁴ Scherer, S.W.⁵ Donnai, D.⁶ Siegel-Bartelt, J.⁷ Tsui, L.-C.⁸ Muenke, M.⁹

11
- 0031694448
- Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired
- (1998) Nat Genet , vol.20 , pp. 180-183
- Brown, S.A.¹ Warburton, D.² Brown, L.Y.³ Yu, C.Y.⁴ Roeder, E.R.⁵ Stengel-Rutkowski, S.⁶ Hennekam, R.C.M.⁷ Muenke, M.⁸

12
- 0033064156
- Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly
- (1999) Nat Genet , vol.22 , pp. 196-198
- Wallis, D.E.¹ Roessler, E.² Hehr, U.³ Nanni, L.⁴ Wiltshire, T.⁵ Richieri-Costa, A.⁶ Gillessen-Kaesbach, G.⁷ Zackai, E.H.⁸ Rommens, J.⁹ Muenke, M.¹⁰

13
- 0002145385
- Mutations in the transcription factor TGIF in holoprosencephaly
- (1998) Am J Hum Genet , vol.63
- Gripp, K.W.¹ Edwards, M.C.² Mowat, D.³ Meinecke, P.⁴ Richieri-Costa, A.⁵ Zackai, E.H.⁶ Elledge, S.⁷ Muenke, M.⁸

14
- 0030448727
- Prenatal diagnosis of terminal deletion 7q and partial trisomy of 3p in fetuses with holoprosencephaly
- (1996) Clin Genet , vol.50 , pp. 321-326
- Chen, C.-P.¹ Liu, F.-F.² January, S.-W.³ Lin, C.-L.⁴ Lan, C.-C.⁵

15
- 0034987246
- Prenatal diagnosis of partial monosomy 18p (18p11.2 → pter) and trisomy 21q (21q22.3 → qter) with alobar holoprosencephaly and premaxillary agenesis
- (2001) Prenat Diagn , vol.21 , pp. 346-350
- Chen, C.-P.¹ Chern, S.-R.² Wang, W.³ Lee, C.-C.⁴ Chen, W.-L.⁵ Chen, L.-F.⁶ Chang, T.-Y.⁷ Tzen, C.-Y.⁸

16
- 0036170640
- Molecular diagnosis of a novel heterozygous 268C → T (R90C) mutation in TGIF gene in a fetus with holoprosencephaly and premaxillary agenesis
- (2002) Prenat Diagn , vol.22 , pp. 5-7
- Chen, C.-P.¹ Chern, S.-R.² Du, S.-H.³ Wang, W.⁴

17
- 0009329119
- Genetics, genetic counseling, and prevention
- Jones KL, ed. Philadelphia: WB Saunders
- (1997) Smith's Recognizable Patterns of Human Malformation, 5th edn. , pp. 706-726
- Jones, K.L.¹

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