Výsledky vyhledávání - Anyane‐Yeboa, Kwame

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  1. 1
    A Novel Mutation Causing Pseudohypoparathyroidism 1A with Congenital Hypothyroidism and Osteoma Cutis

    A Novel Mutation Causing Pseudohypoparathyroidism 1A with Congenital Hypothyroidism and Osteoma Cutis Autor Lubell, Tamar, Garzon, Maria, Anyane−Yeboa, Kwame, Shah, Bina

    Vydáno 2009
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  2. 2
    Homozygosity for Multiple Contiguous Single-Nucleotide Polymorphisms as an Indicator of Large Heterozygous Deletions: Identification of a Novel Heterozygous 8-kb Intragenic Deletion (IVS7–19 to IVS15–17) in a Patient with Glycogen Storage Disease Type II

    Homozygosity for Multiple Contiguous Single-Nucleotide Polymorphisms as an Indicator of Large Heterozygous Deletions: Identification of a Novel Heterozygous 8-kb Intragenic Deletio... Autor Huie, Maryann L., Anyane-Yeboa, Kwame, Guzman, Edwin, Hirschhorn, Rochelle

    Vydáno 2002
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  3. 3
    Networks of Attention in Children With the 22q11 Deletion Syndrome

    Networks of Attention in Children With the 22q11 Deletion Syndrome Autor Sobin, Christina, Kiley-Brabeck, Karen, Daniels, Sarah, Blundell, Maude, Anyane-Yeboa, Kwame, Karayiorgou, Maria

    Vydáno 2004
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  4. 4
    Rare inheritance of Leri-Weill Syndrome due to crossover of short stature Homeobox Gene (SHOX) Deletions between X and Y Chromosomes: a case report

    Rare inheritance of Leri-Weill Syndrome due to crossover of short stature Homeobox Gene (SHOX) Deletions between X and Y Chromosomes: a case report Autor Censani, Marisa, Anyane-Yeboa, Kwame, Wapner, Ronald, Spiegel, Erica, Guzman, Edwin, Oberfield, Sharon E

    Vydáno 2013
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  5. 5
    3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities

    3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities Autor Barua, Subit, Pereira, Elaine M., Jobanputra, Vaidehi, Anyane-Yeboa, Kwame, Levy, Brynn, Liao, Jun

    Vydáno 2022
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  6. 6
    Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase

    Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase Autor Sparling, David P., Fabian, Kendra, Harik, Lara, Jobanputra, Vaidehi, Anyane-Yeboa, Kwame, Oberfield, Sharon E., Fennoy, Ilene

    Vydáno 2016
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  7. 7
    Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay

    Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay Autor Okur, Volkan, LeDuc, Charles A., Guzman, Edwin, Valivullah, Zaheer M., Anyane-Yeboa, Kwame, Chung, Wendy K.

    Vydáno 2019
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  8. 8
    NEUROPSYCHOLOGICAL CHARACTERISTICS OF CHILDREN WITH THE 22q11 DELETION SYNDROME: A DESCRIPTIVE ANALYSIS

    NEUROPSYCHOLOGICAL CHARACTERISTICS OF CHILDREN WITH THE 22q11 DELETION SYNDROME: A DESCRIPTIVE ANALYSIS Autor Sobin, Christina, Kiley-Brabeck, Karen, Daniels, Sarah, Khuri, Jananne, Taylor, Lisa, Blundell, Maude, Anyane-Yeboa, Kwame, Karayiorgou, Maria

    Vydáno 2005
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  9. 9
    Presumptive Diagnosis of Pallister-Hall Syndrome Using Magnetic Resonance Imaging

    Presumptive Diagnosis of Pallister-Hall Syndrome Using Magnetic Resonance Imaging Autor Mehkri, Yusuf, Surapaneni, Krishna, Tarhan, Bedirhan, Eisenbach, Tiffany, Bilgili, Ahmet, Tuna, Ibrahim S, Shuhaiber, Hans H, Anyane-Yeboa, Kwame

    Vydáno 2022
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  10. 10
    Retinoblastoma Presenting in a Child with Hypomelanosis of Ito

    Retinoblastoma Presenting in a Child with Hypomelanosis of Ito Autor El-Sawy, Tarek, He, Lingmin, Chiang, Michael F, Anyane-Yeboa, Kwame, Morel, Kimberly D, Folberg, Robert, Marr, Brian P, Abramson, David

    Vydáno 2011
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  11. 11
    New Diagnosis of Atypical Ataxia-Telangiectasia in a 17-Year-Old Boy with T-Cell Acute Lymphoblastic Leukemia and a Novel ATM mutation

    New Diagnosis of Atypical Ataxia-Telangiectasia in a 17-Year-Old Boy with T-Cell Acute Lymphoblastic Leukemia and a Novel ATM mutation Autor Roohi, Jasmin, Crowe, Jennifer, Loredan, Denis, Anyane-Yeboa, Kwame, Mansukhani, Mahesh M., Omesi, Lenore, Levine, Jennifer, Politi, Anya Revah, Zha, Shan

    Vydáno 2017
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  12. 12
    A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly

    A CCR4-NOT Transcription Complex, Subunit 1, CNOT1, Variant Associated with Holoprosencephaly Autor Kruszka, Paul, Berger, Seth I., Weiss, Karin, Everson, Joshua L., Martinez, Ariel F., Hong, Sungkook, Anyane-Yeboa, Kwame, Lipinski, Robert J., Muenke, Maximilian

    Vydáno 2019
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  13. 13
    Cerebro-Oculo-Facio-Skeletal Syndrome with a Nucleotide Excision–Repair Defect and a Mutated XPD Gene, with Prenatal Diagnosis in a Triplet Pregnancy

    Cerebro-Oculo-Facio-Skeletal Syndrome with a Nucleotide Excision–Repair Defect and a Mutated XPD Gene, with Prenatal Diagnosis in a Triplet Pregnancy Autor Graham, Jr., John M., Anyane-Yeboa, Kwame, Raams, Anja, Appeldoorn, Esther, Kleijer, Wim J., Garritsen, Victor H., Busch, David, Edersheim, Terri G., Jaspers, Nicolaas G. J.

    Vydáno 2001
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  14. 14
    Prenatal diagnosis of sickle hemoglobinopathies: The experience of the Columbia university comprehensive center for sickle cell disease

    Prenatal diagnosis of sickle hemoglobinopathies: The experience of the Columbia university comprehensive center for sickle cell disease Autor Driscoll, M. Catherine, Lerner, Norma, Anyane-Yeboa, Kwame, Maidman, Jack, Warburton, Dorothy, Schaefer-Rego, Kim, Hsu, Ruth, Ince, Carol, Malin, Joanne, Pallai, Michele, Mears, J. Gregory, Bank, Arthur

    Vydáno 1987
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  15. 15
    A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder

    A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder Autor Wang, Yuexia, Lichter-Konecki, Uta, Anyane-Yeboa, Kwame, Shaw, Jessica E., Lu, Jonathan T., Östlund, Cecilia, Shin, Ji-Yeon, Clark, Lorraine N., Gundersen, Gregg G., Nagy, Peter L., Worman, Howard J.

    Vydáno 2016
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  16. 16
    Familial X-Linked Acrogigantism: Postnatal Outcomes and Tumor Pathology in a Prenatally Diagnosed Infant and His Mother

    Familial X-Linked Acrogigantism: Postnatal Outcomes and Tumor Pathology in a Prenatally Diagnosed Infant and His Mother Autor Wise-Oringer, Brittany K, Zanazzi, George J, Gordon, Rebecca J, Wardlaw, Sharon L, William, Christopher, Anyane-Yeboa, Kwame, Chung, Wendy K, Kohn, Brenda, Wisoff, Jeffrey H, David, Raphael, Oberfield, Sharon E

    Vydáno 2019
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  17. 17
    De novo mutations in PURA are associated with hypotonia and developmental delay

    De novo mutations in PURA are associated with hypotonia and developmental delay Autor Tanaka, Akemi J., Bai, Renkui, Cho, Megan T., Anyane-Yeboa, Kwame, Ahimaz, Priyanka, Wilson, Ashley L., Kendall, Fran, Hay, Beverly, Moss, Timothy, Nardini, Monica, Bauer, Mislen, Retterer, Kyle, Juusola, Jane, Chung, Wendy K.

    Vydáno 2015
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  18. 18
    Characterization of the Chromosome 1q41q42.12 region, and the Candidate Gene DISP1, in Patients with CDH

    Characterization of the Chromosome 1q41q42.12 region, and the Candidate Gene DISP1, in Patients with CDH Autor Kantarci, Sibel, Ackerman, Kate G, Russell, Meaghan N, Longoni, Mauro, Sougnez, Carrie, Noonan, Kristin M, Hatchwell, Eli, Zhang, Xiaoyun, Vanmarcke, Rafael Pieretti, Anyane-Yeboa, Kwame, Dickman, Paul, Wilson, Jay, Donahoe, Patricia K, Pober, Barbara R

    Vydáno 2010
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  19. 19
    CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy

    CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy Autor Behr, Gerald G, Liberman, Leonardo, Compton, Jocelyn, Garzon, Maria C, Morel, Kimberly D, Lauren, Christine T, Starc, Thomas J, Kovacs, Stephen J, Beltroni, Vincent, Landres, Rachel, Anyane-Yeboa, Kwame, Meyers, Philip M, Bacha, Emile, Kandel, Jessica J

    Vydáno 2012
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  20. 20
    The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease

    The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left hear... Autor Warburton, Dorothy, Ronemus, Michael, Kline, Jennie, Jobanputra, Vaidehi, Williams, Ismee, Anyane-Yeboa, Kwame, Chung, Wendy, Yu, Lan, Wong, Nancy, Awad, Danielle, Yu, Chih-yu, Leotta, Anthony, Kendall, Jude, Yamrom, Boris, Lee, Yoon-ha, Wigler, Michael, Levy, Dan

    Vydáno 2013
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