7 results on '"Parisi, Melissa A."'
Number of results to display per page
Search Results
2. MKS1 regulates ciliary INPP5E levels in Joubert syndrome
- Author
-
Slaats, Gisela G, Isabella, Christine R, Kroes, Hester Y, Dempsey, Jennifer C, Gremmels, Hendrik, Monroe, Glen R, Phelps, Ian G, Duran, Karen J, Adkins, Jonathan, Kumar, Sairam A, Knutzen, Dana M, Knoers, Nine V, Mendelsohn, Nancy J, Neubauer, David, Mastroyianni, Sotiria D, Vogt, Julie, Worgan, Lisa, Karp, Natalya, Bowdin, Sarah, Glass, Ian A, Parisi, Melissa A, Otto, Edgar A, Johnson, Colin A, Hildebrandt, Friedhelm, van Haaften, Gijs, Giles, Rachel H, Doherty, Dan, Slaats, Gisela G, Isabella, Christine R, Kroes, Hester Y, Dempsey, Jennifer C, Gremmels, Hendrik, Monroe, Glen R, Phelps, Ian G, Duran, Karen J, Adkins, Jonathan, Kumar, Sairam A, Knutzen, Dana M, Knoers, Nine V, Mendelsohn, Nancy J, Neubauer, David, Mastroyianni, Sotiria D, Vogt, Julie, Worgan, Lisa, Karp, Natalya, Bowdin, Sarah, Glass, Ian A, Parisi, Melissa A, Otto, Edgar A, Johnson, Colin A, Hildebrandt, Friedhelm, van Haaften, Gijs, Giles, Rachel H, and Doherty, Dan
- Published
- 2015
3. MKS1 regulates ciliary INPP5E levels in Joubert syndrome
- Author
-
Slaats, Gisela G, Isabella, Christine R, Kroes, Hester Y, Dempsey, Jennifer C, Gremmels, Hendrik, Monroe, Glen R, Phelps, Ian G, Duran, Karen J, Adkins, Jonathan, Kumar, Sairam A, Knutzen, Dana M, Knoers, Nine V, Mendelsohn, Nancy J, Neubauer, David, Mastroyianni, Sotiria D, Vogt, Julie, Worgan, Lisa, Karp, Natalya, Bowdin, Sarah, Glass, Ian A, Parisi, Melissa A, Otto, Edgar A, Johnson, Colin A, Hildebrandt, Friedhelm, van Haaften, Gijs, Giles, Rachel H, Doherty, Dan, Slaats, Gisela G, Isabella, Christine R, Kroes, Hester Y, Dempsey, Jennifer C, Gremmels, Hendrik, Monroe, Glen R, Phelps, Ian G, Duran, Karen J, Adkins, Jonathan, Kumar, Sairam A, Knutzen, Dana M, Knoers, Nine V, Mendelsohn, Nancy J, Neubauer, David, Mastroyianni, Sotiria D, Vogt, Julie, Worgan, Lisa, Karp, Natalya, Bowdin, Sarah, Glass, Ian A, Parisi, Melissa A, Otto, Edgar A, Johnson, Colin A, Hildebrandt, Friedhelm, van Haaften, Gijs, Giles, Rachel H, and Doherty, Dan
- Published
- 2015
4. MKS1 regulates ciliary INPP5E levels in Joubert syndrome
- Author
-
Regenerative Medicine and Stem Cells, Nefro Vasculaire Geneeskunde, Genetica Klinische Genetica, Child Health, Genetica Groep Van Haaften, Circulatory Health, Genetica, Slaats, Gisela G, Isabella, Christine R, Kroes, Hester Y, Dempsey, Jennifer C, Gremmels, Hendrik, Monroe, Glen R, Phelps, Ian G, Duran, Karen J, Adkins, Jonathan, Kumar, Sairam A, Knutzen, Dana M, Knoers, Nine V, Mendelsohn, Nancy J, Neubauer, David, Mastroyianni, Sotiria D, Vogt, Julie, Worgan, Lisa, Karp, Natalya, Bowdin, Sarah, Glass, Ian A, Parisi, Melissa A, Otto, Edgar A, Johnson, Colin A, Hildebrandt, Friedhelm, van Haaften, Gijs, Giles, Rachel H, Doherty, Dan, Regenerative Medicine and Stem Cells, Nefro Vasculaire Geneeskunde, Genetica Klinische Genetica, Child Health, Genetica Groep Van Haaften, Circulatory Health, Genetica, Slaats, Gisela G, Isabella, Christine R, Kroes, Hester Y, Dempsey, Jennifer C, Gremmels, Hendrik, Monroe, Glen R, Phelps, Ian G, Duran, Karen J, Adkins, Jonathan, Kumar, Sairam A, Knutzen, Dana M, Knoers, Nine V, Mendelsohn, Nancy J, Neubauer, David, Mastroyianni, Sotiria D, Vogt, Julie, Worgan, Lisa, Karp, Natalya, Bowdin, Sarah, Glass, Ian A, Parisi, Melissa A, Otto, Edgar A, Johnson, Colin A, Hildebrandt, Friedhelm, van Haaften, Gijs, Giles, Rachel H, and Doherty, Dan
- Published
- 2015
5. A case of true hermaphroditism reveals an unusual mechanism of twinning
- Author
-
Souter, Vivienne, Parisi, Melissa, Nyholt, Dale, Kapur, Raj, Henders, Anjali, Opheim, Kent, Gunther, Daniel, Mitchell, Michael, Glass, Ian, Montgomery, Grant, Souter, Vivienne, Parisi, Melissa, Nyholt, Dale, Kapur, Raj, Henders, Anjali, Opheim, Kent, Gunther, Daniel, Mitchell, Michael, Glass, Ian, and Montgomery, Grant
- Abstract
Traditionally twins are classified as dizygous or fraternal and monozygous or identical (Hall Twinning, 362, 2003 and 735-743). We report a rare case of 46,XX/46,XY twins: Twin A presented with ambiguous genitalia and Twin B was a phenotypically normal male. These twins demonstrate a third, previously unreported mechanism for twinning. The twins underwent initial investigation with 17-hydroxyprogesterone and testosterone levels, pelvic ultrasound and diagnostic laparoscopy. Cytogenetic analysis was performed on peripheral blood cells and skin fibroblasts. Histological examination and Fluorescence in situ hybridization studies on touch imprints were performed on gonadal biopsies. DNA analysis using more than 6,000 DNA markers was performed on skin fibroblast samples from the twins and on peripheral blood samples from both parents. Twin A was determined to be a true hermaphrodite and Twin B an apparently normal male. Both twins had a 46,XX/46,XY chromosome complement in peripheral lymphocytes, skin fibroblasts, and gonadal biopsies. The proportion of XX to XY cells varied between the twins and the tissues evaluated. Most significantly the twins shared 100% of maternal alleles and approximately 50% of paternal alleles in DNA analysis of skin fibroblasts. The twins are chimeric and share a single genetic contribution from their mother but have two genetic contributions from their father thus supporting the existence of a third, previously unreported type of twinning.
- Published
- 2007
6. Möbius sequence, Robin complex, and hypotonia: Severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome
- Author
-
Verloes, Alain, Bitoun, Pierre, Heuskin, Anne, Amrom, Dina, Van De Broeck, Hilde, Nikkel, Sarah S.M., Chudley, Albert A.E., Prasad, Asuri N V A.N., Rusu, Cristina, Covic, Mircea, Toutain, Annick, Moraine, Claude, Parisi, Melissa M.A., Patton, Michael, Martin, Jean-Jacques, Van Thienen, Marie Noelle, Verloes, Alain, Bitoun, Pierre, Heuskin, Anne, Amrom, Dina, Van De Broeck, Hilde, Nikkel, Sarah S.M., Chudley, Albert A.E., Prasad, Asuri N V A.N., Rusu, Cristina, Covic, Mircea, Toutain, Annick, Moraine, Claude, Parisi, Melissa M.A., Patton, Michael, Martin, Jean-Jacques, and Van Thienen, Marie Noelle
- Abstract
We report on nine unrelated children fitting a diagnosis of Carey-Fineman-Ziter syndrome (CFZS). All children presented with Möbius sequence, Pierre Robin complex (6/9) or micrognathia, and hypotonia. Some had primary hypoventilation, delayed development, and acral anomalies. The neuropathological investigations performed in two patients showed a combination of dysplastic lesions (neuronal heterotopias) and encephaloclastic changes consisting of small foci of necrosis with microcalcifications. The mother of a third child had severe trauma during her 2nd month of pregnancy. Based on a review of the literature on MS and CFZS, we suggest designating as "Robin-Möbius phenotype" a distinct clinical variant of MS with extensive brainstem involvement, Robin complex, hypotonia without specific muscle disorder, clubfeet and variable acral anomalies. This condition appears to bear a higher risk of mental handicap and perhaps a higher recurrence risk than "common" MS. Neuropathology and neuroimaging are suggestive, at least in some cases, of a vascular disruption, which could be exogenous, or secondary to a genetic predisposition. Etiologic heterogeneity seems likely and, in that respect, the original CFZS family could represent a private syndrome fitting on the "Robin-Möbius" spectrum. Despite the existence of two familial reports, recurrence risk is probably much lower than 25%, although exact figures cannot be extracted from the available literature. © 2004 Wiley-Liss, Inc., SCOPUS: ar.j, info:eu-repo/semantics/published
- Published
- 2004
7. Möbius sequence, Robin complex, and hypotonia: Severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome
- Author
-
Verloes, Alain, Bitoun, Pierre, Heuskin, Anne, Amrom, Dina, Van De Broeck, Hilde, Nikkel, Sarah S.M., Chudley, Albert A.E., Prasad, Asuri N V A.N., Rusu, Cristina, Covic, Mircea, Toutain, Annick, Moraine, Claude, Parisi, Melissa M.A., Patton, Michael, Martin, Jean-Jacques, Van Thienen, Marie Noelle, Verloes, Alain, Bitoun, Pierre, Heuskin, Anne, Amrom, Dina, Van De Broeck, Hilde, Nikkel, Sarah S.M., Chudley, Albert A.E., Prasad, Asuri N V A.N., Rusu, Cristina, Covic, Mircea, Toutain, Annick, Moraine, Claude, Parisi, Melissa M.A., Patton, Michael, Martin, Jean-Jacques, and Van Thienen, Marie Noelle
- Abstract
We report on nine unrelated children fitting a diagnosis of Carey-Fineman-Ziter syndrome (CFZS). All children presented with Möbius sequence, Pierre Robin complex (6/9) or micrognathia, and hypotonia. Some had primary hypoventilation, delayed development, and acral anomalies. The neuropathological investigations performed in two patients showed a combination of dysplastic lesions (neuronal heterotopias) and encephaloclastic changes consisting of small foci of necrosis with microcalcifications. The mother of a third child had severe trauma during her 2nd month of pregnancy. Based on a review of the literature on MS and CFZS, we suggest designating as "Robin-Möbius phenotype" a distinct clinical variant of MS with extensive brainstem involvement, Robin complex, hypotonia without specific muscle disorder, clubfeet and variable acral anomalies. This condition appears to bear a higher risk of mental handicap and perhaps a higher recurrence risk than "common" MS. Neuropathology and neuroimaging are suggestive, at least in some cases, of a vascular disruption, which could be exogenous, or secondary to a genetic predisposition. Etiologic heterogeneity seems likely and, in that respect, the original CFZS family could represent a private syndrome fitting on the "Robin-Möbius" spectrum. Despite the existence of two familial reports, recurrence risk is probably much lower than 25%, although exact figures cannot be extracted from the available literature. © 2004 Wiley-Liss, Inc., SCOPUS: ar.j, info:eu-repo/semantics/published
- Published
- 2004
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.