Search Results - "DUKER, Angela L"

GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome by LaCroix, Amy J., Stabley, Deborah, Sahraoui, Rebecca, Adam, Margaret P., Mehaffey, Michele, Kernan, Kelly, Myers, Candace T., Fagerstrom, Carrie, Anadiotis, George, Akkari, Yassmine M., Robbins, Katherine M., Gripp, Karen W., Baratela, Wagner A.R., Bober, Michael B., Duker, Angela L., Doherty, Dan, Dempsey, Jennifer C., Miller, Daniel G., Kircher, Martin, Bamshad, Michael J., Nickerson, Deborah A., Mefford, Heather C., Sol-Church, Katia

“…Baratela-Scott syndrome (BSS) is a rare, autosomal-recessive disorder characterized by short stature, facial dysmorphisms, developmental delay, and skeletal…”
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Author Correction: Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia by Gourgas, Ophélie, Lemire, Gabrielle, Eaton, Alison J., Alshahrani, Sultanah, Duker, Angela L., Li, Jingjing, Carroll, Ricki S., Mackenzie, Stuart, Nikkel, Sarah M., Bober, Michael B., Boycott, Kym M., Murshed, Monzur

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Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C D box snoRNA cluster in Prader-Willi syndrome by DUKER, Angela L, BALLIF, Blake C, ROSENFELD, Jill A, LAMB, Allen N, SAHOO, Trilochan, BAWLE, Erawati V, PERSON, Richard E, MAHADEVAN, Sangeetha, ALLIMAN, Sarah, THOMPSON, Regina, TRAYLOR, Ryan, BEJJANI, Bassem A, SHAFFER, Lisa G

“…Prader-Willi syndrome (PWS) is a neurobehavioral disorder manifested by infantile hypotonia and feeding difficulties in infancy, followed by morbid obesity…”
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Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia by Gourgas, Ophélie, Lemire, Gabrielle, Eaton, Alison J., Alshahrani, Sultanah, Duker, Angela L., Li, Jingjing, Carroll, Ricki S., Mackenzie, Stuart, Nikkel, Sarah M., Bober, Michael B., Boycott, Kym M., Murshed, Monzur

“…Matrix Gla protein (MGP) is a vitamin K-dependent post-translationally modified protein, highly expressed in vascular and cartilaginous tissues. It is a potent…”
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The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome by Farach, Laura S., Little, Mary E., Duker, Angela L., Logan, Clare V., Jackson, Andrew, Hecht, Jaqueline T., Bober, Michael

“…RNU4ATAC pathogenic variants to date have been associated with microcephalic osteodysplastic primordial dwarfism, type 1 and Roifman syndrome. Both conditions…”
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Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease by Duker, Angela L, Kinderman, Dagmar, Jordan, Christy, Niiler, Tim, Baker-Smith, Carissa M, Thompson, Louise, Parry, David A, Carroll, Ricki S, Bober, Michael B

“…Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is the most common form of primordial dwarfism, caused by bialleic mutations in the…”
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Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency by Murray, Jennie E., Bicknell, Louise S., Yigit, Gökhan, Duker, Angela L., van Kogelenberg, Margriet, Haghayegh, Sara, Wieczorek, Dagmar, Kayserili, Hülya, Albert, Michael H., Wise, Carol A., Brandon, January, Kleefstra, Tjitske, Warris, Adilia, van der Flier, Michiel, Bamforth, J. Steven, Doonanco, Kurston, Adès, Lesley, Ma, Alan, Field, Michael, Johnson, Diana, Shackley, Fiona, Firth, Helen, Woods, C. Geoffrey, Nürnberg, Peter, Gatti, Richard A., Hurles, Matthew, Bober, Michael B., Wollnik, Bernd, Jackson, Andrew P.

“…ABSTRACT Ligase IV syndrome is a rare differential diagnosis for Nijmegen breakage syndrome owing to a shared predisposition to lympho‐reticular malignancies,…”
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Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia by O'Connell, David A., Carroll, Ricki S., Duker, Angela L., Schelhaas, Andrea J., Postell, Marjorie M., Fawcett, Paul T., Bober, Michael B.

“…The skeletal dysplasias are a heterogeneous group of genetic conditions caused by abnormalities of growth, development, and maintenance of bone and cartilage…”
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NOVEL XRCC4 MUTATIONS IN AN INFANT WITH MICROCEPHALIC PRIMORDIAL DWARFISM, DILATED CARDIOMYOPATHY, SUBCLINICAL HYPOTHYROIDISM, AND EARLY DEATH: EXPANDING THE PHENOTYPE OF XRCC4 MUTATIONS by Fredette, Meghan E, Lombardi, Kristin C, Duker, Angela L, Buck, Catherine O, Phornphutkul, Chanika, Bober, Michael B, Quintos, Jose Bernardo

“…Microcephalic primordial dwarfism (MPD) is a group of clinically and genetically heterogeneous disorders which result in severe prenatal and postnatal growth…”
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Immune Deficiency in Microcephalic Osteodysplastic Primordial Dwarfism Type I/III by Sirohi, Neha, Duker, Angela L., Bober, Michael B., DeFelice, Magee L.

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Tracheal Narrowing and Its Impact on Anesthesia Care in Patients With Morquio A (Mucopolysaccharidosis Type IVA): An Observational Study by Theroux, Mary C., DiCindio, Sabina, Averill, Lauren W., Pizarro, Christian, Oommen, Abraham, Bober, Michael B., Ditro, Colleen, Campbell, Jeffrey, Duker, Angela L., Jones, Taylor, Passi, Vandna, Barth, Patrick, Schmidt, Richard J., Little, Mary, Mackenzie, Stuart, Tomatsu, Shunji, Mackenzie, William G.

“…Recently, tracheal narrowing has been recognized as a significant comorbid condition in patients with Morquio A, also known as mucopolysaccharidosis IVA. We…”
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Prevalence of mental health conditions and pain in adults with skeletal dysplasia by Jennings, Sarah E., Ditro, Colleen P., Bober, Michael B., Mackenzie, William G., Rogers, Kenneth J., Conway, Laura, Duker, Angela L.

“…Purpose We sought to examine the prevalence of depression and anxiety in adults with skeletal dysplasias, and to assess any correlations with pain. Methods…”
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Identification of potential non-invasive biomarkers in diastrophic dysplasia by Paganini, Chiara, Carroll, Ricki S., Gramegna Tota, Chiara, Schelhaas, Andrea J., Leone, Alessandra, Duker, Angela L., O'Connell, David A., Coghlan, Ryan F., Johnstone, Brian, Ferreira, Carlos R., Peressini, Sabrina, Albertini, Riccardo, Forlino, Antonella, Bonafé, Luisa, Campos-Xavier, Ana Belinda, Superti-Furga, Andrea, Zankl, Andreas, Rossi, Antonio, Bober, Michael B.

“…Diastrophic dysplasia (DTD) is a recessive chondrodysplasia caused by pathogenic variants in the SLC26A2 gene encoding for a cell membrane sulfate/chloride…”
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RAB1A haploinsufficiency phenocopies the 2p14–p15 microdeletion and is associated with impaired neuronal differentiation by Rios, Jonathan J., Li, Yang, Paria, Nandina, Bohlender, Ryan J., Huff, Chad, Rosenfeld, Jill A., Liu, Pengfei, Bi, Weimin, Haga, Kentaro, Fukuda, Mitsunori, Vashisth, Shayal, Kaur, Kiran, Chahrour, Maria H., Bober, Michael B., Duker, Angela L., Ladha, Farah A., Hanchard, Neil A., Atala, Kristhen, Khanshour, Anas M., Smith, Linsley, Wise, Carol A., Delgado, Mauricio R.

“…Hereditary spastic parapareses (HSPs) are clinically heterogeneous motor neuron diseases with variable age of onset and severity. Although variants in dozens…”
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Growth in individuals with Saul–Wilson syndrome by Ferreira, Carlos R., Niiler, Timothy, Duker, Angela L., Jackson, Andrew P., Bober, Michael B.

“…Saul–Wilson syndrome (SWS) is a rare autosomal recessive disorder characterized by microcephalic primordial dwarfism, spondyloepimetaphyseal dysplasia,…”
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Rhizomelic chondrodysplasia punctata morbidity and mortality, an update by Duker, Angela L., Niiler, Timothy, Kinderman, Dagmar, Schouten, Monica, Poll‐The, Bwee Tien, Braverman, Nancy, Bober, Michael B.

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Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata by Abousamra, Oussama, Kandula, Vinay, Duker, Angela L, Rogers, Kenneth J, Bober, Michael B, Mackenzie, William G

“…Cervical spine deformity in rhizomelic chondrodysplasia punctata (RCDP) has been described with different findings reported in the literature. However,…”
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Expected weight gain for children with microcephalic osteodysplastic primordial dwarfism type II by Duker, Angela L., Niiler, Timothy, Bober, Michael B.

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Collagen X Marker Levels are Decreased in Individuals with Achondroplasia by Carroll, Ricki S., Olney, Robert C., Duker, Angela L., Coghlan, Ryan F., Mackenzie, William G., Ditro, Colleen P., Brown, Cassondra J., O’Connell, David A., Horton, William A., Johnstone, Brian, Espiner, Eric A., Prickett, Timothy C. R., Bober, Michael B.

“…Collagen X marker (CXM) is a degradation fragment of collagen type X. It is a real-time biomarker of height velocity with established norms. Plasma C-type…”
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Cervical Spine Deformities in Children With Rhizomelic Chondrodysplasia Punctata by Abousamra, Oussama, Kandula, Vinay, Duker, Angela L, Rogers, Kenneth J, Bober, Michael B, Mackenzie, William G

“…BACKGROUND:Cervical spine deformity in rhizomelic chondrodysplasia punctata (RCDP) has been described with different findings reported in the literature…”
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