mecp2.chw.edu.au

RettBASE: Rett Syndrome Variation Database

Welcome to the RettSyndrome.org. Formerly the International Rett Syndrome Foundation, IRSF) MECP2. Variation Database (RettBASE), hosted by the Children's Hospital Westmead. How to cite RettBASE. Submit mutations to RettBASE. The people behind RettBASE. All variant information is manually curated before inclusion in the database. Please see links below. Due to the growing body of mutation data for CDKL5. We are in the process of separating these variants from the MECP2. Data and building search engines.

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RettBASE: Rett Syndrome Variation Database | mecp2.chw.edu.au Reviews

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Welcome to the RettSyndrome.org. Formerly the International Rett Syndrome Foundation, IRSF) MECP2. Variation Database (RettBASE), hosted by the Children's Hospital Westmead. How to cite RettBASE. Submit mutations to RettBASE. The people behind RettBASE. All variant information is manually curated before inclusion in the database. Please see links below. Due to the growing body of mutation data for CDKL5. We are in the process of separating these variants from the MECP2. Data and building search engines.

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2 variation database

3 database

4 general information

5 welcome

6 quick navigation

7 mutation databases

8 acknowledgements

9 or foxg1

10 variants

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RettBASE: Rett Syndrome Variation Database | mecp2.chw.edu.au Reviews

https://mecp2.chw.edu.au

Welcome to the RettSyndrome.org. Formerly the International Rett Syndrome Foundation, IRSF) MECP2. Variation Database (RettBASE), hosted by the Children's Hospital Westmead. How to cite RettBASE. Submit mutations to RettBASE. The people behind RettBASE. All variant information is manually curated before inclusion in the database. Please see links below. Due to the growing body of mutation data for CDKL5. We are in the process of separating these variants from the MECP2. Data and building search engines.

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mecp2.chw.edu.au

1

Chromosomal abnormalities in Rett syndrome

http://mecp2.chw.edu.au/mecp2/info/chrom_abnorm.php

Chromosomal abnormalities in Rett Syndrome and related disorders. This table contains published instances of large chromosomal abnormalities (mostly deletions) that are associated with a Rett-syndrome-like phenotype. The rationale is that new candidate genes for Rett syndrome are likely to be found in the regions affected. The inclusion of a gene in this table DOES NOT. And Xp22 for CDKL5. Have not been included in this table. Description of chromosomal abnormality. Papa et al, 2008. Borg et al, 2005.

2

CDKL5 Variants List

http://mecp2.chw.edu.au/cdkl5/cdkl5_variant_list.php

Variant of uncertain significance. Deletion of promoter and exon 1). Exonic deletion or duplication. Deletion of exons 1 to 3). Exonic deletion or duplication. Exonic deletion or duplication. Deletion of exons 1 to 10). Exonic deletion or duplication. Exonic deletion or duplication. Exonic deletion or duplication. Deletion of exons 1 to 11). Exonic deletion or duplication. Van Esch et al. 5'UTR variation (deletion of exons 1, 1a, 1b). Exonic deletion or duplication. Deletion of exons 1 to 2). Frameshift ...

3

CDKL5 Proband List

http://mecp2.chw.edu.au/cdkl5/cdkl5_proband_list.php

Variant of uncertain significance. Rett syndrome - Rett-like male. Not Rett syndrome - epilepsy, Rett-like. Unaffected - non-RTT control. Unaffected - non-RTT control. Unaffected - non-RTT control. Unaffected - non-RTT control. Unaffected - non-RTT control. Unaffected - normal control. Unaffected - normal control. Not Rett syndrome - epilepsy, Rett-like. Not Rett syndrome - epilepsy, Rett-like. Unaffected - non-RTT control. Unaffected - non-RTT control. Unaffected - non-RTT control. Van Esch et al. Rett ...

4

Reference sequences

http://mecp2.chw.edu.au/mecp2/info/refseq.php

Variants are called based on the e2 isoform (i.e. transcript containing exons 1, 2, 3 &amp 4, with start codon in exon 2). MECP2. Two refseq transcripts are available for CDKL5. As they encode the same protein, only one transcript has been listed in this table. Alternate exons for CDKL5. Have been described (see Williamson et al., 2012. Fichou et al., 2011. And Rademacher et al., 2011. For details) but are not included in either reference sequence. Also refer to Diebold et al., 2014. European Bioinformat...

5

Reference sequences

http://mecp2.chw.edu.au/mecp2/info/refseq/php

Variants are called based on the e2 isoform (i.e. transcript containing exons 1, 2, 3 &amp 4, with start codon in exon 2). MECP2. Two refseq transcripts are available for CDKL5. As they encode the same protein, only one transcript has been listed in this table. Alternate exons for CDKL5. Have been described (see Williamson et al., 2012. Fichou et al., 2011. And Rademacher et al., 2011. For details) but are not included in either reference sequence. Also refer to Diebold et al., 2014. European Bioinformat...

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sindromederett.blogspot.com

Síndrome de Rett: Março 2011

http://sindromederett.blogspot.com/2011_03_01_archive.html

Quinta-feira, 17 de março de 2011. Elisandra e sua história. Por Simone Ribas Bolfer. Durante todo esse tempo criei uma relação com a Tereza de amizade. Era muito bom, também para mim, apoiá-la. Falávamos continuamente, e continuamos nos falando até hoje. Esta mãe é uma pessoa linda, com uma abnegação àquelas filhas. E grávida de novo! Ficamos felizes todas as mães que participavam do movimento da Síndrome de Rett no Brasil. Por que esta família é tão importante? No dia 11 de fevereiro Tereza me ligou co...

sindromederett.blogspot.com

Síndrome de Rett: Dezembro 2010

http://sindromederett.blogspot.com/2010_12_01_archive.html

Domingo, 12 de dezembro de 2010. Atendimento de pacientes no HUGG. Para atendimento de pacientes através do Ambulatório do Hospital Universitário Gaffré e Guinle, com o Dr. Fernando Regla Vargas ou a Dra. Maria Angélica de Faria Domingues de Lima, entrar em contato pelos telefones (21) 2264-1662 ou (21) 2264-1595. O endereço é Rua Mariz e Barros, 775 - Tijuca - Rio de Janeiro. Links para esta postagem. Terça-feira, 7 de dezembro de 2010. Para um natal cheio de esperanças. Já ouvi mais de uma pessoa dizen...

sindromederett.blogspot.com

Síndrome de Rett: Maio 2011

http://sindromederett.blogspot.com/2011_05_01_archive.html

Sábado, 7 de maio de 2011. Feliz Dia das Mães. Nas últimas semanas, fomos bombardeados por uma série de notícias de casos de abandono de bebês, deixados pelas próprias mães em latas de lixo, ruas, quintais e caçambas de entulho. Diante destas notícias, e com a proximidade do Dia das Mães, me pergunto como alguém é capaz de cometer tal ato. E sou levada a pensar: "Qual o real significado de ser mãe? Links para esta postagem. Feliz Dia das Mães. Visualizar meu perfil completo. Lista de sites recomendados.

sindromederett.blogspot.com

Síndrome de Rett: Abril 2011

http://sindromederett.blogspot.com/2011_04_01_archive.html

Domingo, 3 de abril de 2011. Dia Mundial de Conscientização do Autismo. Desde 2008, o dia 02 de Abril foi designado como o “ Dia Mundial de Conscientização do Autismo. 8221;, segundo a Assembléia Geral da Organização das Nações Unidas. ONU), e reforçado pela Convenção sobre os Direitos das Pessoas com Deficiência. Em sua Quarta Edição, realizada ontem, o Dia Mundial de Conscientização do Autismo foi lembrado em vários países. Além de diversos eventos promovidos por entidades engajadas nesta causa. Http:/...

sindromederett.blogspot.com

Síndrome de Rett: Janeiro 2010

http://sindromederett.blogspot.com/2010_01_01_archive.html

Quarta-feira, 6 de janeiro de 2010. Esta postagem é para comunicar a publicação de nosso primeiro artigo científico, decorrente de nosso estudo sobre o gene MECP2. E a síndrome de Rett. O artigo, intitulado ". Identification and characterization of novel sequence variations in. Gene in Rett syndrome patients. Submetido para a revista Brain and Development, está disponível para acesso on-line. Não poderíamos deixar de agradecer às pacientes e suas famílias, que são a maior motivação de nosso trabalho.

sindromederett.blogspot.com

Síndrome de Rett: Marquem esta data em suas agendas!!!

http://sindromederett.blogspot.com/2012/09/marquem-esta-data-em-suas-agendas.html

Domingo, 9 de setembro de 2012. Marquem esta data em suas agendas! Não se esqueçam: esta data merece detaque em nossos calendários. Dia 19/10/2012, "III Jornada sobre a Síndrome de Rett do Hospital Universitário Gaffrée e Guinle". Aguardamos a presença de todos vocês. Até lá! Assinar: Postar comentários (Atom). III Jornada sobre a Síndrome de Rett do Hospital U. Marquem esta data em suas agendas! Informações sobre a III Jornada sobre a síndrome d. Visualizar meu perfil completo. A Força do Bem (ONG).

sindromederett.blogspot.com

Síndrome de Rett: Informações sobre a III Jornada sobre a síndrome de Rett do HUGG

http://sindromederett.blogspot.com/2012/09/informacoes-sobre-iii-jornada-sobre.html

Segunda-feira, 10 de setembro de 2012. Informações sobre a III Jornada sobre a síndrome de Rett do HUGG. Dando continuidade às informações sobre a 'III Jornada sobre síndrome de Rett do Hospital Universitário Gaffrée e Guinle', em breve divulgaremos neste blog a programação completa da Jornada, com as atividades e participantes, bem como outros detalhes relevantes. Confirmando sua presença, indicando se levará ou não sua filha, e se ela faz uso de cadeira de rodas. Assinar: Postar comentários (Atom).

rettsearch.org

RettSearch: RettSearch Microgrant

http://www.rettsearch.org/microgrants.jsp

Consider applying for a RettSearch microgrant! The application is simple: no longer than 2 pages, stating the goals/aims and methodology of the study, as well as the requested funds. A form to assist your application can be downloaded here. Please submit completed applications to the RettSearch Coordinator, at RSCoordinator@rettsearch.org. Call (857) 218-5532 to participate and contribute! The International Consortium of Rett Syndrome Clinical Researchers 2006 - 2012.

rettsearch.org

RettSearch: InterRett

http://www.rettsearch.org/interrett.jsp

InterRett is an international electronic, online database that allows exploration of the phenotypes associated with the variations of the MECP2 gene in Rett syndrome. Questionnaire data includes demographic, clinical, behavioural, developmental, functional and genetic information. View latest case numbers. Your provision of cases would be very valuable! For more information please visit our website. Http:/ interrett.ichr.uwa.edu.au. Telethon Institute for Child Health Research.

rettsearch.org

RettSearch: RettBASE

http://www.rettsearch.org/rettbase.jsp

Introducing RettBASE: The IRSF MECP2. Following the discovery that mutations in MECP2. Are found in most individuals with Rett syndrome, there was a flurry of papers reporting mutations and attempting to draw phenotype-genotype correlations. However, with time the number of MECP2. Mutation reports has decreased, presumably because it has become increasingly difficult to publish reports of MECP2. A unique and important feature of our database is that data relevant to each individual with a MECP2. Ensuring...

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RettBASE: Rett Syndrome Variation Database

Welcome to the RettSyndrome.org. Formerly the International Rett Syndrome Foundation, IRSF) MECP2. Variation Database (RettBASE), hosted by the Children's Hospital Westmead. How to cite RettBASE. Submit mutations to RettBASE. The people behind RettBASE. All variant information is manually curated before inclusion in the database. Please see links below. Due to the growing body of mutation data for CDKL5. We are in the process of separating these variants from the MECP2. Data and building search engines.

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MECP2 Duplicatie Syndroom, voor iedereen die meer wil weten over symptomen, lopend onderzoek, relevante publicaties enz. « MECP2 Duplicatie Syndroom

MECP2 duplicatie syndroom vs Rett syndroom. Als zich binnen het. Gen (spreek uit: mek-pee-twee, of mec-pea-two) een fout bevindt, bijvoorbeeld een klein stukje van dat gen is verdubbeld, of ontbreekt, dan leidt dat bij meisjes tot het Rett syndroom. Zeer zelden komt het Rett syndroom bij jongens voor, echter altijd in combinatie met een afwijking van het X-chromosoom. Ouders maken belangrijk onderzoek mogelijk. Foldertje met belangrijkste kenmerken. Het foldertje is er in het Engels en in het Nederlands.

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Other MECP2 Duplication Resources. MECP2 Duplication Syndrome is Reversible! Check out the newest article. From the 401 Project on the Get Involved Page. Click icon above to purchase tickets. On July 21, 2004, I was blessed with another son, Braden. We knew that something was wrong when we noticed he wasn’t tracking items with his eyes, was very floppy and not achieving milestones such as sitting and crawling. When Braden was 2 years old, he was given the diagnosis of MECP2. In 2008, many friendships hav...

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MECP2 Duplication UK - To provide Support emotionally, practically and financially to families affected by MECP2 Duplication Syndrome, reducing isolation and exclusion

Welcome to MECP2 Duplication UK. Pop in to see what we can do for you. Bereavement is also very difficult to deal with, we will support you as much as possible but we strongly advise you to seek assistance from a specialist. The below contacts are a great starting point to put you in touch with those that can help. What is MECP2 duplication syndrome? Common characteristics of MECP2 are:. Gastroesophageal Re-flux: Reflux has been noted in about 80% of cases. Limited language: Most individuals are describe...

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Life as a MeCP2 Mummy | The ups and downs of life as a parent to a child with profound disabilities.

Life as a MeCP2 Mummy. The ups and downs of life as a parent to a child with profound disabilities. As Christmas is once again drawing near (is it just me or do they come far too frequently? I find myself reflecting on life and all of its ups and downs. However, Christmas for my family since 2012 has taken a sudden and cruel plummet in the ratings! 8221; I have never seen the look of sheer wonder and delight as he steps into the living room and see’s that YES, Santa HAS been! Mummy is writing this down!