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Long-term follow-up of four patients with langer???giedion syndrome: clinical course and complications

Schinzel, Albert; Riegel, Mariluce; Baumer, Alessandra; Furga, Andrea Superti; Moreira, Lilia M. A.; Santo, Layla D. E.; Schiper, Patricia P.; Carvalho, Jos?? Henrique Dantas; Giedion, Andres (2013)

Microdeletion and microduplication syndromes

Weise, Anja; Mrasek, Kristin; Klein, Elisabeth; Mulatinho, Milene; Llerena Junior, Juan Clinton; Hardekopf, David; Pekova, Sona; Bhatt, Samarth; Kosyakova, Nadezda; Liehr, Thomas (Histochemical Society, 2014)

Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith–Magenis syndrome with evident peripheral neuropathy

Autor desconocido (Human Genetics, 2017-10-01)

Hereditary neuropathy with liability to pressure palsies (HNPP) and Smith-Magenis syndrome (SMS) are genomic disorders associated with deletion copy number variants involving chromosome 17p12 and 17p11.2, respectively. ...

Successful stem cell transplantation in a child with chronic granulomatous disease associated with contiguous gene deletion syndrome and complicated by macrophage activation syndrome

Scheffler Mendoza, Selma Cecilia (2014)

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

Hijazi, Hadia; Coelho, Fernanda Sales; Gonzaga Jauregui, Claudia; Bernardini, Laura; Mar, Soe S.; Manning, Melanie A.; Hanson-Kahn, Andrea; Naidu, SakkuBai; Srivastava, Siddharth; Lee, Jennifer A.; Jones, Julie R.; Friez, Michael J.; Alberico, Thomas; Torres, Barbara; Fang, Ping; Cheung, Sau Wai; Song, Xiaofei; Davis-Williams, Angelique; Jornlin, Carly; Wight, Patricia A.; Patyal, Pankaj; Taube, Jennifer; Poretti, Andrea; Inoue, Ken; Zhang, Feng; Pehlivan, Davut; Carvalho, Claudia M. B.; Hobson, Grace M.; Lupski, James R. (Wiley-Liss, 2020)

Long-term follow-up of four patients with langer–giedion syndrome: clinical course and complications

Schinzel, Albert; Riegel, Mariluce; Baumer, Alessandra; Furga, Andrea Superti; Moreira, Lilia M. A.; Santo, Layla D. E.; Schiper, Patricia P.; Carvalho, José Henrique Dantas; Giedion, Andres; Schinzel, Albert; Riegel, Mariluce; Baumer, Alessandra; Furga, Andrea Superti; Moreira, Lilia M. A.; Santo, Layla D. E.; Schiper, Patricia P.; Carvalho, José Henrique Dantas; Giedion, Andres (2013)

Long-term observations of individuals with the so-called Langer–Giedion (LGS) or tricho–rhino-phalangeal type II (TRPS2) are scarce. We report here a on follow-up of four LGS individuals, including one first described by ...

Severe phenotype in MPS II patients associated with a large deletion including contiguous genes

Brusius-Facchin, Ana Carolina; Souza, Carolina Fischinger Moura De; Schwartz, Ida Vanessa D.; Riegel, Mariluce; Melaragno, Maria Isabel; Correia, Patrícia; Moraes, Lúcia Marques; Llerena Junior, Juan Clinton; Giugliani, Roberto; Leistner-Segal (Wiley Liss, 2014)

Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy

Neira Fresneda, Juanita; Gu, Shen; Harel, Tamar; Yuan, Bo; Liu, Pengfei; Briceño Balcázar, Ignacio; Elsea, Sarah H.; Gómez Gutiérrez, Alberto; Potocki, Lorraine; Lupski, James R.

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

Neonatal seizures and long QT Syndrome: A cardiocerebral channelopathy?

Heron, Sarah E.; Hernandez, Marta; Edwards, Caitlin; Edkins, Edward; Jansen, Floor E.; Scheffer, Ingrid E.; Berkovic, Samuel F.; Mulley, John C. (WILEY-BLACKWELL, 2010)

We identified a patient with electrophysiologically verified neonatal long QT syndrome (LQTS) and neonatal seizures in the presence of a controlled cardiac rhythm. To find a cause for this unusual combination of phenotypes, ...

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Long-term follow-up of four patients with langer???giedion syndrome: clinical course and complications

Microdeletion and microduplication syndromes

Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith–Magenis syndrome with evident peripheral neuropathy

Successful stem cell transplantation in a child with chronic granulomatous disease associated with contiguous gene deletion syndrome and complicated by macrophage activation syndrome

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

Long-term follow-up of four patients with langer–giedion syndrome: clinical course and complications

Severe phenotype in MPS II patients associated with a large deletion including contiguous genes

Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy

Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome

Neonatal seizures and long QT Syndrome: A cardiocerebral channelopathy?