-
1
-
-
33845942655
-
ACOG Practice Bulletin No. 77: Screening for fetal chromosomal abnormalities
-
ACOG Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol. 2007;109:217-27.
-
(2007)
Obstet Gynecol
, vol.109
, pp. 217-27
-
-
-
2
-
-
33846260136
-
A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome
-
DOI 10.1016/j.ejmg.2006.10.003, PII S1769721206001030
-
Addis M, Meloni C, Congiu R, Santaniello S, Emma F, Zuffardi O, et al. A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome. Eur J Med Genet. 2007;50:79-84. (Pubitemid 46097581)
-
(2007)
European Journal of Medical Genetics
, vol.50
, Issue.1
, pp. 79-84
-
-
Addis, M.1
Meloni, C.2
Congiu, R.3
Santaniello, S.4
Emma, F.5
Zuffardi, O.6
Ciccone, R.7
Cao, A.8
Melis, M.A.9
Cau, M.10
-
3
-
-
75649104945
-
Increased nuchal translucency in euploid fetuses - What should we be telling the parents?
-
Bilardo CM, Timmerman E, Pajkrt E, van Maarle M. Increased nuchal translucency in euploid fetuses - what should we be telling the parents? Prenat Diagn. 2010;30: 93-102.
-
(2010)
Prenat Diagn.
, vol.30
, pp. 93-102
-
-
Bilardo, C.M.1
Timmerman, E.2
Pajkrt, E.3
Van Maarle, M.4
-
5
-
-
34250318149
-
Different seizure types and skin lesions in oculocerebrorenal syndrome of Lowe
-
DOI 10.1177/0883073807301928
-
Erdogan F, Ismailogullari S, Soyuer I, Ferahbas A, Poyrazoglu H. Different seizure types and skin lesions in oculocerebrorenal syndrome of Lowe. J Child Neurol. 2007;22:427-31. (Pubitemid 46909530)
-
(2007)
Journal of Child Neurology
, vol.22
, Issue.4
, pp. 427-431
-
-
Erdogan, F.1
Ismailogullari, S.2
Soyuer, I.3
Ferahbas, A.4
Poyrazoglu, H.5
-
6
-
-
0027457547
-
In utero detection of fetal cataracts
-
Gaary EA, Rawnsley E, Marin-Padilla JM, Morse CL, Crow HC. In utero detection of fetal cataracts. J Ultrasound Med. 1993;12:234-6. (Pubitemid 23108189)
-
(1993)
Journal of Ultrasound in Medicine
, vol.12
, Issue.4
, pp. 234-236
-
-
Gaary, E.A.1
Rawnsley, E.2
Marin-Padilla, J.M.3
Morse, C.L.4
Crow, H.C.5
-
8
-
-
0035086937
-
Nuchal translucency measurement and pregnancy outcome in karyotypically normal fetuses
-
Michailidis GD, Economides DL. Nuchal translucency measurement and pregnancy outcome in karyotypically normal fetuses. Ultrasound Obstet Gynecol. 2001;17:102-5.
-
(2001)
Ultrasound Obstet Gynecol
, vol.17
, pp. 102-5
-
-
Michailidis, G.D.1
Economides, D.L.2
-
9
-
-
0028337163
-
Fetal oculocerebrorenal syndrome of lowe associated with elevated maternal serum and amniotic fluid alpha-fetoprotein levels
-
Miller RC, Wolf EJ, Gould M, Macri CJ, Charnas LR. Fetal oculocerebrorenal syndrome of Lowe associated with elevated maternal serum and amniotic fluid a-fetoprotein levels. Obstet Gynecol. 1994;84:77-80. (Pubitemid 24202962)
-
(1994)
Obstetrics and Gynecology
, vol.84
, Issue.1
, pp. 77-80
-
-
Miller, R.C.1
Wolf, E.J.2
Gould, M.3
Macri, C.J.4
Charnas, L.R.5
-
10
-
-
73449105736
-
Increased nuchal translucency with normal karyotype: A follow-up study of 100 cases supplemented with CGH and MLPA analyses
-
Schou KV, Kirchhoff M, Nygaard U, Jorgensen C, Sundberg K. Increased nuchal translucency with normal karyotype: a follow-up study of 100 cases supplemented with CGH and MLPA analyses. Ultrasound Obstet Gynecol. 2009;34:618-22.
-
(2009)
Ultrasound Obstet Gynecol
, vol.34
, pp. 618-22
-
-
Schou, K.V.1
Kirchhoff, M.2
Nygaard, U.3
Jorgensen, C.4
Sundberg, K.5
-
11
-
-
77956635676
-
Antenatal diagnosis of Lowe syndrome
-
Sethi SK, Lunardi J, Kabra M, Deka D, Bagga A. Antenatal diagnosis of Lowe syndrome. Clin Exp Nephrol. 2010;14: 296-7.
-
(2010)
Clin Exp Nephrol.
, vol.14
, pp. 296-7
-
-
Sethi, S.K.1
Lunardi, J.2
Kabra, M.3
Deka, D.4
Bagga, A.5
-
12
-
-
0023089666
-
Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms
-
Silver DN, Lewis RA, Nussbaum RL. Mapping the Lowe oculocerebrorenal syndrome to Xq24-q26 by use of restriction fragment length polymorphisms. J Clin Invest. 1987;79:282-5. (Pubitemid 17232529)
-
(1987)
Journal of Clinical Investigation
, vol.79
, Issue.1
, pp. 282-285
-
-
Silver, D.N.1
Lewis, R.A.2
Nussbaum, R.L.3
-
14
-
-
0031926213
-
Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10-14 weeks of gestation
-
DOI 10.1046/j.1469-0705.1998.11060391.x
-
Souka AP, Snijders RJ, Novakov A, Soares W, Nicolaides KH. Defects and syndromes in chromosomally normal fetuses with increased nuchal translucency thickness at 10-14 weeks of gestation. Ultrasound Obstet Gynecol. 1998;11:391-400. (Pubitemid 28344740)
-
(1998)
Ultrasound in Obstetrics and Gynecology
, vol.11
, Issue.6
, pp. 391-400
-
-
Souka, A.P.1
Snijders, R.J.M.2
Novakov, A.3
Soares, W.4
Nicolaides, K.H.5
-
15
-
-
0034920539
-
Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester
-
The authors stated that there are no conflicts of interest regarding the publication of this article
-
Souka AP, Krampl E, Bakalis S, Heath V, Nicolaides KH. Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester. Ultrasound Obstet Gynecol. 2001;18:9-17. The authors stated that there are no conflicts of interest regarding the publication of this article.
-
(2001)
Ultrasound Obstet Gynecol
, vol.18
, pp. 9-17
-
-
Souka, A.P.1
Krampl, E.2
Bakalis, S.3
Heath, V.4
Nicolaides, K.H.5
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