Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Kira, Apse"'
Autor:
Bart Loeys, Jirko Kühnisch, Wenke Seifert, Hans Christian Hennies, Denise Horn, Hossein Najmabadi, Genevieve Laureys, Andreas Tzschach, Kira Apse, Grazia M.S. Mancini, Eva H. Brilstra, Muriel Holder-Espinasse, Masoud Garshasbi, Kimia Kahrizi, Wolfram Kress, Andreas W. Kuss, Hélène Dollfus, Karin Dahan
Publikováno v:
Human Mutation. 30:E404-E420
Cohen syndrome is characterised by mental retardation, postnatal microcephaly, facial dysmorphism, pigmentary retinopathy, myopia, and intermittent neutropenia. Mutations in COH1 (VPS13B) have been found in patients with Cohen syndrome from diverse e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::389e9456de58b5c717527e69037adb1b
https://doi.org/10.1002/humu.20886
https://doi.org/10.1002/humu.20886
Autor:
Brenda E. Barry, Tae Kyung Kim, Kyriacos Markianos, Robert Sean Hill, Jennifer N. Partlow, Russell J. Ferland, Hui Yao, Samira Al-Saad, Danielle Gleason, Rachel Greenblatt, Julia A. Ertelt, Robert M. Joseph, Kira Apse, Adria Bodell, Christopher A. Walsh, Steven W. Flavell, Yingxi Lin, Michael E. Greenberg, Janice Ware, Generoso G. Gascon, Soher Balkhy, Nahit Motavalli Mukaddes, Seung-Yun Yoo, Asif Hashmi, Eric M. Morrow
Publikováno v:
Science. 321:218-223
To find inherited causes of autism-spectrum disorders, we studied families in which parents share ancestors, enhancing the role of inherited factors. We mapped several loci, some containing large, inherited, homozygous deletions that are likely mutat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::215f776dba41bee06b56c80ca3c927d3
https://doi.org/10.1126/science.1157657
https://doi.org/10.1126/science.1157657
Autor:
Volney L. Sheen, Russell J. Ferland, Christopher A. Walsh, John N. Gaitanis, Kira Apse, Umadevi Tantravahi
Publikováno v:
American Journal of Medical Genetics Part A. :1305-1311
We report here on the first case of a child with bilateral periventricular nodular heterotopia (PNH) and Williams syndrome. Fluorescent in situ hybridization (FISH) analyses demonstrated a deletion of the elastin gene in the Williams syndrome critica
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::266b2e814e51850f28417327e05fec79
https://doi.org/10.1002/ajmg.a.31259
https://doi.org/10.1002/ajmg.a.31259
Autor:
Katia Mage, Annie Elbez, Kira Apse, Martine Sinico, Serge Amselem, Claude Danan, Jason Neal, Jean-Claude Janaud, Volney L. Sheen, Kalotina Machinis, Marion Gérard-Blanluet, Lanto Ratsimbazafy, Christopher A. Walsh, Pierre Brugières, Férechté Encha-Razavi
Publikováno v:
American Journal of Medical Genetics Part A. :1041-1046
We report on the case of dizygotic twin boys, born prematurely to an asymptomatic mother. Bilateral periventricular heterotopias with enlarged ventricles were discovered at birth in both twins. One of the twins died prematurely of bronchopulmonary co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba5922f599fadfae2cf4a73c9c469526
https://doi.org/10.1002/ajmg.a.31197
https://doi.org/10.1002/ajmg.a.31197
Autor:
Kira Apse, Barbara P. Fuller, Barbara B. Biesecker, Barbara A. Bernhardt, Francis M. Giardiello
Publikováno v:
Genetics in Medicine. 6:510-516
Purpose: To explore the concerns of at-risk relatives of colorectal cancer patients about genetic discrimination and their awareness of current legislative protections. Methods: A questionnaire was sent to unaffected individuals with a family history
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a6fad469bb49fbc0e5d17f75e698e54
https://doi.org/10.1097/01.gim.0000144013.96456.6c
https://doi.org/10.1097/01.gim.0000144013.96456.6c
Autor:
Wenke, Seifert, Muriel, Holder-Espinasse, Jirko, Kühnisch, Kimia, Kahrizi, Andreas, Tzschach, Masoud, Garshasbi, Hossein, Najmabadi, Andreas, Walter Kuss, Wolfram, Kress, Geneviève, Laureys, Bart, Loeys, Eva, Brilstra, Grazia M S, Mancini, Hélène, Dollfus, Karin, Dahan, Kira, Apse, Hans Christian, Hennies, Denise, Horn
Publikováno v:
Human mutation. 30(2)
Cohen syndrome is characterised by mental retardation, postnatal microcephaly, facial dysmorphism, pigmentary retinopathy, myopia, and intermittent neutropenia. Mutations in COH1 (VPS13B) have been found in patients with Cohen syndrome from diverse e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::2231f99a771f407422c1949e65b4e6e5
https://pubmed.ncbi.nlm.nih.gov/19006247
https://pubmed.ncbi.nlm.nih.gov/19006247
Autor:
Münevver Atmaca, Bernard S. Chang, Osman Özdel, Füsun Düzcan, Seonhee Kim, Mine Cinbiş, Abha Aggarwal, Kira Apse, Sevil Zencir, Huseyin Bagci, Christopher A. Walsh
Publikováno v:
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. (1)
Reelin is an extracellular matrix-associated protein important in the regulation of neuronal migration during cerebral cortical development. Point mutations in the RELN gene have been shown to cause an autosomal recessive human brain malformation ter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d94be8c2432aa61f30526141dd1de85c
https://pubmed.ncbi.nlm.nih.gov/16958033
https://pubmed.ncbi.nlm.nih.gov/16958033
Publikováno v:
American journal of medical genetics. Part A. 140(15)
Periventricular heterotopia (PH) is a malformation of cortical development characterized by the ectopic localization of neuronal nodules along the lateral ventricle. Mutations in X-linked filamin A gene are the most common cause of PH, although a rar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f4d323ff35236f6f4931268a100b59c
https://pubmed.ncbi.nlm.nih.gov/16835933
https://pubmed.ncbi.nlm.nih.gov/16835933
Autor:
R. D. Jacobson, A. J. Barkovich, Kette D. Valente, J. H. Cross, A. Mclellan, Bernard S. Chang, R. Caraballo, Kira Apse, Christopher A. Walsh
Publikováno v:
ResearcherID
A number of familial syndromes of bilateral polymicrogyria (PMG) have been described, but reported unilateral PMG cases have generally been sporadic. The authors identified four families in which unilateral right-sided PMG on MRI was present in more
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36da3600bef957c94b8d22ace378f81f
https://pubmed.ncbi.nlm.nih.gov/16401865
https://pubmed.ncbi.nlm.nih.gov/16401865
Autor:
Füsun Erdoğan, R. Sean Hill, Christopher A. Walsh, Kira Apse, Sophie Currier, Ian Tietjen, Christine K. Lee, Bernard S. Chang
Publikováno v:
American journal of medical genetics. Part A. 135(2)
Schizencephaly is a human brain malformation distinguished by full-thickness unilateral or bilateral clefts through the neocortex. Heterozygous mutations in the EMX2 locus are reported to give rise to schizencephaly. However, the comprehensive identi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::878030b19fd5ee984b9768ff702be6ae
https://pubmed.ncbi.nlm.nih.gov/15887302
https://pubmed.ncbi.nlm.nih.gov/15887302