Search Results - "Plamondon, Jenna"

45,X/46,XY mosaicism: Clinical manifestations and long term follow‐up by Alkhunaizi, Ebba, Albrecht, Jenna Plamondon, Aarabi, Mahmoud, Witchel, Selma F., Wherrett, Diane, Babul‐Hirji, Riyana, Dupuis, Annie, Chiniara, Lyne, Chater‐Diehl, Eric, Shago, Mary, Shuman, Cheryl, Rajkovic, Aleksandar, Yatsenko, Svetlana A., Chitayat, David

“…45,X/46,XY chromosomal mosaicism presents a range of clinical manifestations, including phenotypes from Turner syndrome through genital abnormalities to…”
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The clf2 gene has an epigenetic role in the multifactorial etiology of cleft lip and palate in the A/WySn mouse strain by Plamondon, Jenna A., Harris, Muriel J., Mager, Dixie L., Gagnier, Liane, Juriloff, Diana M.

“…BACKGROUND The A/WySn mouse strain with 15 to 20% penetrance of cleft lip and palate (CLP) is an animal model for human multifactorial CLP. The CLP is due to…”
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Parental questions about sex chromosome aneuploidies regarding sex, gender, and sexual orientation as reported by genetic counselors in a prenatal setting by Burzynski, Sarah, Leonard, Jaqueline, Albrecht, Jenna Plamondon, Doyle, Lauren E, Mills, Rachel

“…The introduction of cell-free DNA screening has resulted in increased prenatal identification of sex chromosome aneuploidies (SCAs). This study aimed to…”
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A prenatally diagnosed case of Donnai‐Barrow syndrome: Highlighting the importance of whole exome sequencing in cases of consanguinity by Ozdemir, Halis, Plamondon, Jenna, Gaskin, Peter, Asoglu, Mehmet R., Turan, Sifa

“…Donnai‐Barrow syndrome (DBS) is an autosomal recessive disorder characterized by typical craniofacial features, vision and hearing loss, intellectual…”
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eP071: 45,X/46,XY mosaicism: Retrospective study of 100 patients by Alkhunaizi, Ebba, Plamondon, Jenna, Aarabi, Mahmoud, Wherrett, Diane, Babul-Hirj, Riyana, Dupuis, Annie, Chiniara, Lyne, Witchel, Selma F., Rajkovic, Aleksandar, George, Mary Ann, Shuman, Cheryl, Yatsenko, Svetlana, Chitayat, David

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Barriers in communication and available resources to facilitate conversation about infertility with girls diagnosed with Turner syndrome by King, Jessica E, Plamondon, Jenna, Counts, Debra, Laney, Dawn, Dixon, Shannan DeLany

“…Delayed discussion about infertility with individuals affected by Turner syndrome (TS) has been found to result in psychological and social harm. The aim of…”
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