Zobrazeno 1 - 10
of 101
pro vyhledávání: '"Carrie L. Heike"'
Autor:
Andrew T. Timberlake, MD, PhD, Daniel Quiat, MD, Michael L. Cunningham, MD, PhD, John Persing, MD, Daniela Luquetti, MD PhD, Carrie L. Heike, MD, Jonathan Seidman, PhD, Christine Seidman, PhD
Publikováno v:
Plastic and Reconstructive Surgery, Global Open, Vol 11, Iss 4S, Pp 37-38 (2023)
Externí odkaz:
https://doaj.org/article/d436710092004aa48d6bad1045ee0a07
Autor:
Andrew T. Timberlake, Casey Griffin, Carrie L. Heike, Anne V. Hing, Michael L. Cunningham, David Chitayat, Mark R. Davis, Soghra J. Doust, Amelia F. Drake, Milagros M. Duenas-Roque, Jack Goldblatt, Jonas A. Gustafson, Paula Hurtado-Villa, Alexis Johns, Natalya Karp, Nigel G. Laing, Leanne Magee, University of Washington Center for Mendelian Genomics, Sureni V. Mullegama, Harry Pachajoa, Gloria L. Porras-Hurtado, Rhonda E. Schnur, Jennie Slee, Steven L. Singer, David A. Staffenberg, Andrew E. Timms, Cheryl A. Wise, Ignacio Zarante, Jean-Pierre Saint-Jeannet, Daniela V. Luquetti
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-11 (2021)
Despite being a common congenital facial anomaly, the genetic etiology of craniofacial microsomia (CFM) is not well understood. Here, the authors use exome and genome sequencing of 146 individuals with CFM to identify haploinsufficient variants in SF
Externí odkaz:
https://doaj.org/article/d765e285eeb1444f96c9860e6bc243dd
Autor:
Andrew T. Timberlake, MD, PhD, Daniel Quiat, MD, Michael Cunningham, MD, John Persing, MD, Daniela V. Luquetti, MD, Carrie L. Heike, MD, Jonathan Seidman, PhD, Christine Seidman, PhD
Publikováno v:
Plastic and Reconstructive Surgery, Global Open, Vol 11, Iss 5S, Pp 1-1 (2023)
Externí odkaz:
https://doaj.org/article/1a6c87b2284546e5935f2ec26f3934c6
Autor:
Dongjing Liu, Nora Alhazmi, Harold Matthews, Myoung Keun Lee, Jiarui Li, Jacqueline T. Hecht, George L. Wehby, Lina M. Moreno, Carrie L. Heike, Jasmien Roosenboom, Eleanor Feingold, Mary L. Marazita, Peter Claes, Eric C. Liao, Seth M. Weinberg, John R. Shaffer
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-13 (2021)
Abstract The contribution of low-frequency variants to the genetic architecture of normal-range facial traits is unknown. We studied the influence of low-frequency coding variants (MAF
Externí odkaz:
https://doaj.org/article/1f6e2e4e71fb416a9663c9577931071c
Autor:
Daniela V. Luquetti, Carrie L. Heike, Ignacio Zarante, Andrew E. Timms, Jonas Gustafson, Harry Pachajoa, Gloria L. Porras‐Hurtado, Paola Ayala‐Ramirez, Milagros M. Duenas‐Roque, Natalia Jimenez, Lina M. Ibanez, Paula Hurtado‐Villa
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 10, Pp n/a-n/a (2020)
Abstract Background Craniofacial microsomia (CFM), also known as the oculo‐auriculo‐vertebral spectrum, comprises a variable phenotype with the most common features including microtia and mandibular hypoplasia on one or both sides, in addition to
Externí odkaz:
https://doaj.org/article/ac22a56482324882a03a2f67acf1ced2
Autor:
Craig B. Birgfeld, MD, Carrie L. Heike, MD, MS, Faisal Al-Mufarrej, MD, Adam Oppenheimer, MD, Shawn E. Kamps, MD, Widya Adidharma, BS, Babette Siebold, PhD
Publikováno v:
Plastic and Reconstructive Surgery, Global Open, Vol 7, Iss 3, p e1944 (2019)
Background:. Premature fusion of the metopic suture (ie, metopic craniosynostosis) can be difficult to discriminate from physiological closure of the metopic suture with ridging (MR). Yet, MCS is treated surgically, whereas MR is treated nonsurgicall
Externí odkaz:
https://doaj.org/article/9686ec10344541448927ea3d7e1a9a0e
Autor:
Zakia Hammal, PhD, Erin R. Wallace, PhD, Matthew L. Speltz, PhD, Carrie L. Heike, MD, MS, Craig B. Birgfeld, MD, Jeffrey F. Cohn, PhD
Publikováno v:
Plastic and Reconstructive Surgery, Global Open, Vol 7, Iss 1, p e2081 (2019)
Background:. Craniofacial microsomia (CFM) is a congenital condition associated with malformations of the bone and soft tissue of the face and the facial nerves, all of which have the potential to impair facial expressiveness. We investigated whether
Externí odkaz:
https://doaj.org/article/799e4e1bd84b47b7bf4ff341edbf46ab
Publikováno v:
Plastic and Reconstructive Surgery, Global Open, Vol 1, Iss 7, p e62 (2013)
Background: Metopic craniosynostosis can occur in isolation or in conjunction with other congenital anomalies. The surgical decision making and outcomes between these 2 groups are analyzed. Methods: A retrospective review of all children evaluated in
Externí odkaz:
https://doaj.org/article/fc31071e4f0a4bb1b3fe57a58599c115
Autor:
Salene M. W. Jones, Todd C. Edwards, Brian G. Leroux, Kathleen A. Kapp-Simon, Donald L. Patrick, Laura P. Stueckle, Janine M. Rosenberg, Meredith Albert, Claudia Crilly Bellucci, Cassandra L. Aspinall, Katherine Vick, Carrie L. Heike
Publikováno v:
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association.
Caregiver and observer-reported measures are frequently used as outcomes for research on infants and young children who are unable to report on their own health. Our team developed the Infant with Clefts Observation Outcomes Instrument (iCOO) for inf
Publikováno v:
Journal of Plastic, Reconstructive & Aesthetic Surgery. 75:1781-1792
Aim: This article provides a review of a decade of clinical research studies on clinical features, medical interventions, and surgical interventions for individuals with craniofacial microsomia (CFM). We also provide recommendations for future clinic