Search Results - "Siegel, D H"

Dermatological findings in 61 mutation-positive individuals with cardiofaciocutaneous syndrome by Siegel, D.H., McKenzie, J., Frieden, I.J., Rauen, K.A.

“…Summary Background  The RASopathies are a class of human genetic syndromes that are caused by germline mutations in genes which encode components of the…”
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Dermatological phenotype in Costello syndrome: consequences of Ras dysregulation in development by Siegel, D.H., Mann, J.A., Krol, A.L., Rauen, K.A.

“…Summary Background  The RASopathies are a class of human genetic syndromes caused by germline mutations in genes that encode protein components of the…”
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Risk factors for morphoea disease severity: a retrospective review of 114 paediatric patients by Pequet, M.S., Holland, K.E., Zhao, S., Drolet, B.A., Galbraith, S.S., Siegel, D.H., Chiu, Y.E.

“…Summary Background Morphoea is a rare fibrosing disease of the skin and subcutaneous tissue with an unpredictable disease course, running the spectrum from…”
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Cervical and Intracranial Arterial Anomalies in 70 Patients with PHACE Syndrome by HESS, C. P, FULLERTON, H. J, BARKOVICH, A. J, METRY, D. W, DROLET, B. A, SIEGEL, D. H, AUGUSTE, K. I, GUPTA, N, HAGGSTROM, A. N, DOWD, C. F, FRIEDEN, I. J

“…Cerebral and cervical arterial abnormalities are the most common non-cutaneous anomaly in PHACE syndrome, but the location and type of arterial lesions that…”
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Demographic and clinical characteristics of cutaneous lupus erythematosus at a paediatric dermatology referral centre by Dickey, B.Z., Holland, K.E., Drolet, B.A., Galbraith, S.S., Lyon, V.B., Siegel, D.H., Chiu, Y.E.

“…Summary Background Paediatric cutaneous lupus erythematosus (CLE) is uncommon and inadequately described in the literature. Similar to adults, children with…”
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Cutaneous findings in paediatric solid organ transplant recipients by Coughlin, C.C., Siegel, D.H.

“…Linked Article: Foo et al. Br J Dermatol 2018; 179 1368–1375…”
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LUMBAR syndrome–OEIS complex overlap: A case series and review by Barrios, L., Chamlin, S., Keppler‐Noreuil, Kim M., Rialon, K. L., Austin, Paul, Alhajjat, A., Bowen, D., Metry, Denise W., Siegel, D. H.

“…We present three new and six published infants with overlapping features of LUMBAR syndrome (lower body hemangioma, urogenital anomalies, spinal cord…”
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What do mosaic RASopathies tell us about carcinogenesis? by Siegel, D.H., Tower, R., Drolet, B.A.

“…Linked Article: Prieto‐Barrios et al. Br J Dermatol 2018; 179:1163–1167…”
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Mosaic pathogenic HRAS variant in a patient with nevus spilus with agminated Spitz nevi and parametrial–uterine rhabdomyosarcoma by Nemeth, K., Szabo, S., Cottrell, C.E., McNulty, S.M., Segura, A., Sokumbi, O., Browning, M., Siegel, D.H.

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Evaluation of maternal history of miscarriage, infertility and in vitro fertilization as associated factors in PHACE by Kim, M.E., Cancel, M., Metry, D., Strawn, E.Y., Drolet, B.A., Chiu, Y.E., Siegel, D.H.

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X Chromosome-Inactivation Patterns in 31 Individuals with PHACE Syndrome by Sullivan, C.T., Christian, S.L., Shieh, J.T.C., Metry, D., Blei, F., Krol, A., Drolet, B.A., Frieden, I.J., Dobyns, W.B., Siegel, D.H.

“…Segmental hemangiomas of the head and neck can be associated with multiple congenital anomalies in the disorder known as PHACE syndrome (OMIM 606519)…”
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TAG-72-reactive antibody CC49 recognizes molecules expressed by hematopoietic cell lines by Nicolet, C M, Siegel, D H, Surfus, J E, Sondel, P M

“…Aberrant glycosylation of mucins on the surface of adenocarcinomas leads to exposure of novel tumor-associated epitopes potentially recognizable by the immune…”
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Open Adoption of Infants: Adoptive Parents' Feelings Seven Years Later by Siegel, Deborah H.

“…Adoptions today increasingly include contact between adoptive and birth families. What do these “open adoptions” look like? How do the participants feel about…”
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Arterial stents in the management of neurofibromatosis and renovascular hypertension in a pediatric patient : case report of a new treatment modality by ING, F. F, GOLDBERG, B, SIEGEL, D. H, TRACHTMAN, H, BIERMAN, F. Z

“…A 17-year-old male with neurofibromatosis presented with severe hypertension secondary to an abdominal aortic coarctation and bilateral renal artery stenoses…”
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Open Adoption: Adoptive Parents' Reactions Two Decades Later by Siegel, Deborah H.

“…Unlike in the past, most adoption agencies today offer birth parents and adoptive parents the opportunity to share identifying information and have contact…”
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Evaluation of maternal history of miscarriage, infertility and inￂ vitro fertilization as associated factors in PHACE by Kim, ME, Cancel, M, Metry, D, Strawn, EY, Drolet, BA, Chiu, YE, Siegel, DH

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Dental root abnormalities in four children with PHACE syndrome by Youssef, Molly J., Siegel, Dawn H., Chiu, Yvonne E., Drolet, Beth A., Hodgson, Brian D.

“…PHACE(S) syndrome is a condition characterized by posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, eye abnormalities, sternal…”
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Loss of Kindlin-1, a Human Homolog of the Caenorhabditis elegans Actin–Extracellular-Matrix Linker Protein UNC-112, Causes Kindler Syndrome by Siegel, Dawn H., Ashton, Gabrielle H.S., Penagos, Homero G., Lee, James V., Feiler, Heidi S., Wilhelmsen, Kirk C., South, Andrew P., Smith, Frances J.D., Prescott, Alan R., Wessagowit, Vesarat, Oyama, Noritaka, Akiyama, Masashi, Al Aboud, Daifullah, Al Aboud, Khalid, Al Githami, Ahmad, Al Hawsawi, Khalid, Al Ismaily, Abla, Al-Suwaid, Raouf, Atherton, David J., Caputo, Ruggero, Fine, Jo-David, Frieden, Ilona J., Fuchs, Elaine, Haber, Richard M., Harada, Takashi, Kitajima, Yasuo, Mallory, Susan B., Ogawa, Hideoki, Sahin, Sedef, Shimizu, Hiroshi, Suga, Yasushi, Tadini, Gianluca, Tsuchiya, Kikuo, Wiebe, Colin B., Wojnarowska, Fenella, Zaghloul, Adel B., Hamada, Takahiro, Mallipeddi, Rajeev, Eady, Robin A.J., McLean, W.H. Irwin, McGrath, John A., Epstein, Ervin H.

“…Kindler syndrome is an autosomal recessive disorder characterized by neonatal blistering, sun sensitivity, atrophy, abnormal pigmentation, and fragility of the…”
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Ethical Issues in Open Adoption: Implications for Practice by Reamer, Frederic G., Siegel, Deborah H.

“…Total secrecy and confidentiality no longer typify adoption in the United States. Today, most adoptions involve an exchange of information or some form of…”
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OVALBUMIN AEROALLERGEN EXPOSURE-RESPONSE IN BROWN NORWAY RATS by Siegel, P D, Al-Humadi, N H, Millecchia, L L, Robinson, V A, Hubbs, A F, Nelson, E R, Fedan, J S

“…A major route of exposure to allergens is through the respiratory tract. Comparatively few animal studies have used aerosolized high-molecular-weight allergens…”
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