Search Results - "Begtrup, A"

De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females by Webster, R., Cho, M.T., Retterer, K., Millan, F., Nowak, C., Douglas, J., Ahmad, A., Raymond, G.V., Johnson, M.R., Pujol, A., Begtrup, A., McKnight, D., Devinsky, O., Chung, W.K.

“…Intellectual disability (ID) affects about 3% of the population and has a male gender bias. Of at least 700 genes currently linked to ID, more than 100 have…”
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De novo variants in KLF7 are a potential novel cause of developmental delay/intellectual disability, neuromuscular and psychiatric symptoms by Powis, Z., Petrik, I., Cohen, J.S., Escolar, D., Burton, J., van Ravenswaaij‐Arts, C.M.A., Sival, D.A., Stegmann, A.P.A., Kleefstra, T., Pfundt, R., Chikarmane, R., Begtrup, A., Huether, R., Tang, S., Shinde, D.N.

“…Due to small numbers of reported patients with pathogenic variants in single genes, the phenotypic spectrum associated with genes causing neurodevelopmental…”
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De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review by van den Akker, W.M.R., Brummelman, I., Martis, L.M., Timmermans, R.N., Pfundt, R., Kleefstra, T., Willemsen, M.H., Gerkes, E.H., Herkert, J.C., van Essen, A.J., Rump, P., Vansenne, F., Terhal, P.A., van Haelst, M.M., Cristian, I., Turner, C.E., Cho, M.T., Begtrup, A., Willaert, R., Fassi, E., van Gassen, K.L.I., Stegmann, A.P.A., de Vries, B.B.A., Schuurs‐Hoeijmakers, J.H.M.

“…De novo variants in the gene encoding cyclin‐dependent kinase 13 (CDK13) have been associated with congenital heart defects and intellectual disability (ID)…”
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Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome by Vivero, M., Cho, M.T., Begtrup, A., Wentzensen, I.M., Walsh, L., Payne, K., Zarate, Y.A., Bosanko, K., Schaefer, G.B., DeBrosse, S., Pollack, L., Mason, K., Retterer, K., DeWard, S., Juusola, J., Chung, W.K.

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TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism by Suzuki, Yoshiro, Chitayat, David, Sawada, Hirotake, Deardorff, Matthew A., McLaughlin, Heather M., Begtrup, Amber, Millar, Kathryn, Harrington, Jennifer, Chong, Karen, Roifman, Maian, Grand, Katheryn, Tominaga, Makoto, Takada, Fumio, Shuster, Shirley, Obara, Megumi, Mutoh, Hiroshi, Kushima, Reiko, Nishimura, Gen

“…Transient neonatal hyperparathyroidism (TNHP) is etiologically a heterogeneous condition. One of the etiologies is an insufficient maternal-fetal calcium…”
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Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures” by Costantini, Alice, Valta, Helena, Baratang, Nissan Vida, Yap, Patrick, Bertola, Débora R., Yamamoto, Guilherme L., Kim, Chong A., Chen, Jiani, Wierenga, Klaas J., Fanning, Elizabeth A., Escobar, Luis, McWalter, Kirsty, McLaughlin, Heather, Willaert, Rebecca, Begtrup, Amber, Alm, Jessica J., Reinhardt, Dieter P., Mäkitie, Outi, Campeau, Philippe M.

“…Heterozygous pathogenic variants in the FN1 gene, encoding fibronectin (FN), have recently been shown to be associated with a skeletal disorder in some…”
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Predicting lower third molar eruption on panoramic radiographs after cephalometric comparison of profile and panoramic radiographs by Begtrup, Anders, Grønastøð, Halldis Á, Christensen, Ib Jarle, Kjær, Inger

“…Previous studies have suggested methods for predicting third molar tooth eruption radiographically. Still, this prediction is associated with uncertainty. The…”
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Novel mutations in fibronectin associated with metaphyseal fractures - Expanding the phenotype of patients with a subtype of spondylomethaphyseal dysplasia with "corner fractures" by Alm, JJ, Costantini, A, Valta, H, Baratang, NV, Yap, P, Bertola, D, Yamamoto, G, Kim, CA, Chen, JN, Wierenga, KJ, Fanning, EA, Escobar, L, Mcwalter, K, Mclaughlin, H, Willaert, R, Begtrup, A, Reinhardt, DP, Makitie, O, Campeau, PM

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Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome by Vivero, M, Cho, M T, Begtrup, A, Wentzensen, I M, Walsh, L, Payne, K, Zarate, Y A, Bosanko, K, Schaefer, G B, DeBrosse, S, Pollack, L, Mason, K, Retterer, K, DeWard, S, Juusola, J, Chung, W K

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Protect your patient against latex allergy by Hansen, A B

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