Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals

Authors: Layo-Carris, Dana E., Lubin, Emily E., Sangree, Annabel K., Clark, Kelly J., Durham, Emily L., Gonzalez, Elizabeth M., Smith, Sarina, Angireddy, Rajesh, Wang, Xiao Min, Weiss, Erin, Toutain, Annick, Mendoza-Londono, Roberto, Dupuis, Lucie, Damseh, Nadirah, Velasco, Danita, Valenzuela, Irene, Codina-Solà, Marta, Ziats, Catherine, Have, Jaclyn, Clarkson, Katie, Steel, Dora, Kurian, Manju, Barwick, Katy, Carrasco, Diana, Dagli, Aditi I., Nowaczyk, M. J. M., Hančárová, Miroslava, Bendová, Šárka, Prchalova, Darina, Sedláček, Zdeněk, Baxová, Alica, Nowak, Catherine Bearce, Douglas, Jessica, Chung, Wendy K., Longo, Nicola, Platzer, Konrad, Klöckner, Chiara, Averdunk, Luisa, Wieczorek, Dagmar, Krey, Ilona, Zweier, Christiane, Reis, Andre, Balci, Tugce, Simon, Marleen, Kroes, Hester Y., Wiesener, Antje, Vasileiou, Georgia, Marinakis, Nikolaos M., Veltra, Danai, Sofocleous, Christalena, Kosma, Konstantina, Traeger Synodinos, Joanne, Voudris, Konstantinos A., Vuillaume, Marie-Laure, Gueguen, Paul, Derive, Nicolas, Colin, Estelle, Battault, Clarisse, Au, Billie, Delatycki, Martin, Wallis, Mathew, Gallacher, Lyndon, Majdoub, Fatma, Smal, Noor, Weckhuysen, Sarah, Schoonjans, An-Sofie, Kooy, R. Frank, Meuwissen, Marije, Cocanougher, Benjamin T., Taylor, Kathryn, Pizoli, Carolyn E., McDonald, Marie T., James, Philip, Roeder, Elizabeth R., Littlejohn, Rebecca, Borja, Nicholas A., Thorson, Willa, King, Kristine, Stoeva, Radka, Suerink, Manon, Nibbeling, Esther, Baskin, Stephanie, L. E. Guyader, Gwenaël, Kaplan, Julie, Muss, Candace, Carere, Deanna Alexis, Bhoj, Elizabeth J. K., Bryant, Laura M.

Source: European Journal of Human Genetics: EJHG; August 2024, Vol. 32 Issue: 8 p928-937, 10p

The Ocular Manifestations of Jacobsen Syndrome: A Report of Four Cases and a Review of the Literature

Authors: Miller, G. L., Somani, S., Nowaczyk, M. J. M., Feigenbaum, A., Davidson, R. G., Costa, T., Levin, A. V.

Source: OPHTHALMIC GENETICS. 27(1):1-7

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN185151886&indx=1&recIds=ETOCRN185151886

FISH-Mapping of Telomeric 14q32 Deletions: Search for the Cause of Seizures

Authors: Schlade-Bartusiak, K., Costa, T., Summers, A. M., Nowaczyk, M. J. M., Cox, D. W.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 138(3):218-224

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN176847509&indx=1&recIds=ETOCRN176847509

Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly

Authors: Yatsenko, S. A., Cheung, S. W., Scott, D. A., Nowaczyk, M. J. M., Tarnopolsky, M., Naidu, S., Bibat, G., Patel, A., Leroy, J. G., Scaglia, F.

Source: JOURNAL OF MEDICAL GENETICS. 42(4):328-335

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Founder Effect for the T93M DHCR7 Mutation in Smith-Lemli-Opitz Syndrome

Authors: Nowaczyk, M. J. M., Martin-Garcia, D., Aquino-Perna, A., Rodriguez-Vazquez, M., McCaughey, D., Eng, B., Nakamura, L. M., Waye, J. S.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 125(2):173-176

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Boy With 47,XXY,del(15)(q11.2q13) Karyotype and Prader-Willi Syndrome: A New Case and Review of the Literature

Authors: Nowaczyk, M. J. M., Zeesman, S., Kam, A., Taylor, S. A. M., Carter, R. F., Whelan, D. T.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 125(1):73-76

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN144688350&indx=1&recIds=ETOCRN144688350

Oral-Facial-Digital Syndrome VII Is Oral-Facial-Digital Syndrome I: A Clarification

Authors: Nowaczyk, M. J. M., Zeesman, S., Whelan, D. T., Wright, V., Feather, S. A.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 123(2):179-182

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De Novo 1q32q44 Duplication and Distal 1q Trisomy Syndrome

Authors: Nowaczyk, M. J. M., Bayani, J., Freeman, V., Watts, J., Squire, J., Xu, J.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 120(2):229-233

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN133893057&indx=1&recIds=ETOCRN133893057

Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure

Authors: van Kuilenburg, A. B. P., Dobritzsch, D., Meinsma, R., Haasjes, J., Waterham, H. R., Nowaczyk, M. J. M., Maropoulos, G. D., Hein, G., Kalhoff, H., Kirk, J. M.

Source: BIOCHEMICAL JOURNAL -LONDON-. 364(1):157-163

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN112987897&indx=1&recIds=ETOCRN112987897

Smith-Lemli-Opitz Syndrome: New Mutation With a Mild Phenotype

Authors: Prasad, C., Marles, S., Prasad, A. N., Nikkel, S., Longstaffe, S., Peabody, D., Eng, B., Wright, S., Waye, J. S., Nowaczyk, M. J. M.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. 108(1):64-68

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN108182611&indx=1&recIds=ETOCRN108182611

DHCR7 and Smith-Lemli-Opitz syndrome

Authors: Nowaczyk, M. J. M., Nakamura, L. M., Waye, J. S.

Source: CLINICAL AND INVESTIGATIVE MEDICINE. 24(6):311-317

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN107043846&indx=1&recIds=ETOCRN107043846

Smith-Lemli-Optiz (RHS) Syndrome: Holoprosencephaly and Homozygous IVS8-1G→C Genotype

Authors: Nowaczyk, M. J. M., Farrell, S. A., Sirkin, W. L., Velsher, L., Krakowiak, P. A., Waye, J. S., Porter, F. D.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. 103(1):75-80

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN101191266&indx=1&recIds=ETOCRN101191266

Frequency and Ethnic Distribution of the Common DIICR7 Mutation in Smith-Lemli-Optiz Syndrome

Authors: Nowaczyk, M. J. M., Nakamura, L. M., Eng, B., Porter, F. D., Waye, J. S.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. 102(4):383-386

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN101189820&indx=1&recIds=ETOCRN101189820

The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology

Authors: Nowaczyk, M. J. M., Waye, J. S.

Source: CLINICAL GENETICS. 59(6):375-386

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN098158790&indx=1&recIds=ETOCRN098158790

Ultrasound Assessment of Fetal Chromosomal Abnormalities: A Pictorial Review

Authors: Mernagh, J. R., Mohide, P., Caco, C., Nowaczyk, M. J. M., Fedoryshin, J.

Source: RADIOLOGIST -BALTIMORE-. 8(1):33-51

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN091697622&indx=1&recIds=ETOCRN091697622

Ultrasound Assessment of Fetal Skeletal System: A Pictorial Review

Authors: Mernagh, J. R., Mohide, P., Caco, C., Nowaczyk, M. J. M., Fedoryshin, J.

Source: RADIOLOGIST -BALTIMORE-. 7(6):269-286

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN089858513&indx=1&recIds=ETOCRN089858513

RECURRENT FAMILIAL NEONATAL DEATHS: HEREDITARY SURFACTANT PROTEIN B DEFICIENCY

Authors: Andersen, C., Ramsay, J. A., Nogee, L. M., Shah, J., Wert, S. E., Paes, B., Nowaczyk, M. J. M.

Source: AMERICAN JOURNAL OF PERINATOLOGY. 17(4):219-224

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN085306418&indx=1&recIds=ETOCRN085306418

Mutation Analysis and Description of Sixteen RSH/Smith-Lemil-Opitz Syndrome Patients: Polymerase Chain Reaction-Based Assays to Simplify Genotyping

Authors: Krakowiak, P. A., Nwokoro, N. A., Wassif, C. A., Battaile, K. P., Nowaczyk, M. J. M., Connor, W. E., Maslen, C., Steiner, R. D., Porter, F. D.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. 94(3):214-227

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN084206970&indx=1&recIds=ETOCRN084206970

Wolf-Hirschorn Syndrome Resulting From Partial Monosomy 4p/Trisomy 9p

Authors: Xu, J., Freeman, V., Carter, R. F., Paes, B., Heshka, T., Nowaczyk, M. J. M.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. 93(4):285-289

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN082244062&indx=1&recIds=ETOCRN082244062

Anesthetic considerations in Smith-Lemli-Opitz syndrome

Authors: Choi, P. T.-L., Nowaczyk, M. J. M.

Source: CANADIAN JOURNAL OF ANAESTHESIA. 47(6):556-561

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN081128613&indx=1&recIds=ETOCRN081128613