Search Results - "Slavotinek, A.M."

KBG syndrome: Report of twins, neurological characteristics, and delineation of diagnostic criteria by Skjei, K.L., Martin, M.M., Slavotinek, A.M.

“…KBG syndrome is a multiple congenital anomaly (MCA) syndrome comprising developmental delay, postnatal short stature, and delayed bone age. Many physical…”
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Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects by Slavotinek, A.M., Garcia, S.T., Chandratillake, G., Bardakjian, T., Ullah, E., Wu, D., Umeda, K., Lao, R., Tang, P.L.-F., Wan, E., Madireddy, L., Lyalina, S., Mendelsohn, B.A., Dugan, S., Tirch, J., Tischler, R., Harris, J., Clark, M.J., Chervitz, S., Patwardhan, A., West, J.M., Ursell, P., de Alba Campomanes, A., Schneider, A., Kwok, P.-y., Baranzini, S., Chen, R.O.

“…Anophthalmia/microphthalmia (A/M) is a genetically heterogeneous birth defect for which the etiology is unknown in more than 50% of patients. We used exome…”
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Fraser syndrome and cryptophthalmos: review of the diagnostic criteria and evidence for phenotypic modules in complex malformation syndromes by Slavotinek, A M, Tifft, C J

“…Fraser syndrome is characterised by cryptophthalmos, cutaneous syndactyly, malformations of the larynx and genitourinary tract, craniofacial dysmorphism,…”
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Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis by Sparks, T.N., Lianoglou, B.R., Adami, R.R., Pluym, I.D., Holliman, K., Duffy, K., Downum, S.L., Patel, S., Faubel, A., Boe, N.M., Field, N.T., Murphy, A., Laurent, L.C., Jolley, J., Uy, C., Slavotinek, A.M., Devine, P., Hodoglugil, U., Van Ziffle, J., Sanders, S.J., MacKenzie, T.C., Norton, M.E.

“…(N Engl J Med. 2020;383:1746–1756) Nonimmune hydrops fetalis (NIHF) is a severe disorder associated with a high risk of stillbirth, preterm birth, neonatal…”
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Subtypes of frontonasal dysplasia are useful in determining clinical prognosis by Wu, E., Vargevik, K., Slavotinek, A.M.

“…Frontonasal dysplasia [FND; OMIM 136760] results from abnormal morphogenesis of the frontonasal process with disruption of the formation of the facial midline…”
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Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration by West, B., Bove, K.E., Slavotinek, A.M.

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Bannayan-Ruvalcaba-Riley Syndrome (Brrs): A Case Report of a Family Outlining the Importance of Minor Diagnostic Criteria and the Need for Cancer Screening Guidelines by Swidler, P.A., Slavotinek, A.M.

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Cleft lip with or without cleft palate: Frequency in different ethnic populations from the UCSF craniofacial clinic by Hsieh, E.W.Y., Yeh, R.-F., Oberoi, S., Vargervik, K., Slavotinek, A.M.

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A Case Report of Duplication of X-Chromosome Material in a 3 Year Old Male with Minor Dysmorphic Features and Developmental Delay by Owen, R., Swidler, P.A., Slavotinek, A.M., Packman, S.

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Sudden death in Proteus syndrome by Slavotinek, A.M., Vacha, S., Peters, K., Biesecker, L.G.

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