Výsledky vyhledávání - "I. B. Van den Veyver"

Implication of chromosomal microarray analysis prior to in-utero repair of fetuses with open neural tube defects

Autor: R. Zemet, E. Krispin, R. M. Johnson, N. R. Kumar, L. E. Westerfield, S. Stover, D. G. Mann, J. Castillo, H. A. Castillo, A. A. Nassr, M. Sanz Cortes, R. Donepudi, J. Espinoza, W. E. Whitehead, M. A. Belfort, A. A. Shamshirsaz, I. B. Van den Veyver

Publikováno v: Ultrasound in obstetricsgynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

In-utero repair of open neural tube defects (ONTD) is an accepted treatment option with demonstrated superior outcomes for eligible patients. While current guidelines recommend genetic testing by chromosomal microarray analysis (CMA) when a major con

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29c1b7c00e74802a5ec44cbe929709ca
https://pubmed.ncbi.nlm.nih.gov/36610024

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No evidence for mutations in NLRP7, NLRP2 or KHDC3L in women with unexplained recurrent pregnancy loss or infertility

Autor: Lusine Aghajanova, Neil J. Sebire, Lesley Regan, Anneli Stavreus-Evers, I B Van den Veyver, Rosemary A. Fisher, Peter H. Dixon, Signe Altmäe, Sangeetha Mahadevan

Publikováno v: Human Reproduction. 30:232-238

Are mutations in NLRP2/7 (NACHT, LRR and PYD domains-containing protein 2/7) or KHDC3L (KH Domain Containing 3 Like) associated with recurrent pregnancy loss (RPL) or infertility?We found no evidence for mutations in NLRP2/7 or KHDC3L in unexplained

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa3e9582fb4cac6c7eee2cc9436a2134
https://doi.org/10.1093/humrep/deu296

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Newborn Screening and Prenatal Diagnosis for Rett Syndrome: Implications for Therapy

Autor: R. E. Amir, V. Reid Sutton, I. B. Van den Veyver

Publikováno v: Journal of Child Neurology. 20:779-783

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e6fe373395cb94fa800577e741fd09ee
https://doi.org/10.1177/08830738050200082901

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Terminal osseous dysplasia and pigmentary defects: clinical characterization of a novel male lethal X-linked syndrome

Autor: C A, Bacino, D W, Stockton, R A, Sierra, H A, Heilstedt, R, Lewandowski, I B, Van den Veyver

Publikováno v: American journal of medical genetics. 94(2)

We describe a new syndrome of distal limb anomalies and pigmentary skin defects in 10 females of a large, four-generation pedigree. The family was ascertained through a 4-month-old infant girl with multiple anomalies, including hypertelorism, iris co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::75fbc100bab6c48350c545260065df40
https://pubmed.ncbi.nlm.nih.gov/10982966

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Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

Autor: R E, Amir, I B, Van den Veyver, R, Schultz, D M, Malicki, C Q, Tran, E J, Dahle, A, Philippi, L, Timar, A K, Percy, K J, Motil, O, Lichtarge, E O, Smith, D G, Glaze, H Y, Zoghbi

Publikováno v: Annals of neurology. 47(5)

We screened 71 sporadic and 7 familial Rett syndrome (RTT) patients for MECP2 mutations by direct sequencing and determined the pattern of X chromosome inactivation (XCI) in 39 RTT patients. We identified 23 different disease-causing MECP2 mutations

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::13364c0be929d2307da04ad01167f981
https://pubmed.ncbi.nlm.nih.gov/10805343

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Genomic structure of a human holocytochrome c-type synthetase gene in Xp22.3 and mutation analysis in patients with Rett syndrome

Autor: I B, Van den Veyver, S, Subramanian, H Y, Zoghbi

Publikováno v: American journal of medical genetics. 78(2)

The human holocytochrome c-type synthetase (HCCS) gene is located on Xp22.3 and is one of the genes identified in a 450-Kb region deleted in the neurodevelopmental disorder microphthalmia with linear skin defects. Several other developmental disorder

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::28a63663f8211182e49bae18692a895f
https://pubmed.ncbi.nlm.nih.gov/9674913

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Treatment of polyhydramnios with indomethacin

Autor: W B, Kramer, I B, Van den Veyver, B, Kirshon

Publikováno v: Clinics in perinatology. 21(3)

Polyhydramnios detected in a pregnancy should always be investigated thoroughly. We believe chromosomal abnormalities should be excluded, but that determination need not delay therapy. Indomethacin has been shown to reduce amniotic fluid volume in ce

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c3d72bf1290009d1c23bc0cfd781b2c6
https://pubmed.ncbi.nlm.nih.gov/7982337

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The effect of gestational age and fetal indomethacin levels on the incidence of constriction of the fetal ductus arteriosus

Autor: I B, Van den Veyver, K J, Moise, C N, Ou, R J, Carpenter

Publikováno v: Obstetrics and gynecology. 82(4 Pt 1)

To determine the effects of gestational age and fetal serum indomethacin levels on constriction of the ductus arteriosus after maternal indomethacin administration.Twenty-five pregnant Rh-sensitized patients were given a 50-mg oral dose of indomethac

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::98bcdd23c385d07a1c707b31509b2b42
https://pubmed.ncbi.nlm.nih.gov/8377971

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