Search Results - "Neidich, J A"

Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening by Leydiker, K.B., Neidich, J.A., Lorey, F., Barr, E.M., Puckett, R.L., Lobo, R.M., Abdenur, J.E.

“…Prior to the advent of expanded newborn screening, sudden and unexplained death was often the first and only symptom of medium-chain acyl-CoA dehydrogenase…”
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Clonal analysis of solitary follicular nodules in the thyroid by Hicks, DG, LiVolsi, VA, Neidich, JA, Puck, JM, Kant, JA

“…Accumulated data using functional, morphologic, and histochemical analysis suggests that follicular proliferations in the thyroid include polyclonal and…”
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Complete nasal agenesis with bilateral microphthalmia and unilateral duplication of the thumb by LaTrenta, G S, Choi, H W, Ward, R F, Hoffman, L, Neidich, J A

“…Complete nasal aplasia is an extremely rare clinical entity and most infants are stillborn when this is associated with holoprosencephaly. A viable 3-year-old…”
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Midline defects of the orofaciodigital syndrome type VI (Váradi syndrome) by WEY, P. D, NEIDICH, J. A, HOFFMAN, L. A, LATRENTA, G. S

“…The orofaciodigital syndromes (OFDS) represent a spectrum of anomalies of the palate, cranium, hands, and feet. Váradi syndrome, designated OFDS type VI, is a…”
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Should all pregnant patients be offered prenatal diagnosis regardless of age? by Druzin, M L, Chervenak, F, McCullough, L B, Blatman, R N, Neidich, J A

“…To assess the acceptance of prenatal genetic diagnosis by patients younger than 35 years old who are therefore not yet at great risk for non-disjunction…”
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The association of cleft lip and palate with Aicardi syndrome by Umansky, W S, Neidich, J A, Schendel, S A

“…In summary, Aicardi syndrome is defined by its tetrad of infantile spasms, agenesis of the corpus callosum, mental retardation, and chorioretinal lacunae. We…”
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Heterogeneity of clinical severity and molecular lesions in Aicardi syndrome by Neidich, J A, Nussbaum, R L, Packer, R J, Emanuel, B S, Puck, J M

“…All patients with Aicardi syndrome are female or have a 47,XXY karyotype. This finding, along with a report of an Aicardi syndrome patient with an…”
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Trisomy 18 score: a rapid, reliable diagnostic test for trisomy 18 by Marion, R W, Chitayat, D, Hutcheon, R G, Neidich, J A, Zackai, E H, Singer, L P, Warman, M

“…We developed a bedside scoring system for diagnosis of trisomy 18 in the immediate neonatal period. Points are assigned for the presence of features known to…”
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Aglossia with congenital absence of the mandibular rami and other craniofacial abnormalities by Neidich, J A, Whitaker, L A, Natowicz, M, McDonald, D M, Schnur, R, Zackai, E H

“…We describe a severe first branchial arch abnormality including nearly complete absence of mandible, hypoplasia of the maxilla and the zygomatic arches, and…”
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Frontonasal malformation and cloacal exstrophy: A previously unreported association by Robin, Nathaniel H., Neidich, Julie A., Bason, Lynn D., Whitaker, Linton A., McDonald-McGinn, Donna, Hunter, Jill, Snyder III, Howard M., Zackai, Elaine H.

“…We report on a child with frontonasal malformation (FNM) and cloacal exstrophy, a combination of findings that have not been reported previously. In FNM and…”
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OC02.03: Predictive value of cell‐free DNA screening in a modern cohort: a single institution's experience by Bligard, K.H., Amarillo, I.E., Haas, K.M., Stanley, A.P., Neidich, J.A., Gray, D.L.

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X chromosome inactivation patterns in obligate carriers of X-linked lymphoproliferative syndrome by Conley, M E, Sullivan, J L, Neidich, J A, Puck, J M

“…To determine whether the gene defect that causes X-linked lymphoproliferative syndrome (XLP) results in a selective disadvantage in proliferation or survival…”
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Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3 by Schweitzer, Daniela N., Graham Jr, John M., Lachman, Ralph S., Jabs, Ethylin Wang, Okajima, Kazuki, Przylepa, Kelly A., Shanske, Alan, Chen, Kelly, Neidich, Julie A., Wilcox, William R.

“…A unique type of craniofacial dysostosis, Crouzon syndrome with acanthosis nigricans (CAN), has been attributed to a specific substitution (Ala391Glu) in the…”
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"Baby rattle" pelvis dysplasia by Cormier-Daire, Valérie, Savarirayan, Ravi, Lachman, Ralph S., Neidich, Julie A., Grace, Kim, Rimoin, David L., Wilcox, William R.

“…We report an apparently previously undescribed lethal skeletal dysplasia, clinically resembling achondrogenesis, but with distinct radiologic and…”
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