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silver-russell syndroom - groeistoornis veroorzaakt dwerggroei
Definitie voor Silver-Russell syndroom
Silver-Russell dwarfism, also called Silver-Russell syndrome (SRS) or Russell-Silver syndrome (RSS) is a growth disorder occurring in approximately 1/75000 births.
meer
Silver-Russell dwarfism, also called Silver-Russell syndrome (SRS) or Russell-Silver syndrome (RSS) is a growth disorder occurring in approximately 1/75000 births. In the United States it is usually referred to as Russel-Silver Syndrome, and Silver-Russell Syndrome elsewhere. It is one of 200 types of dwarfism and one of five types of primordial dwarfism and is one of the few forms that is considered treatable. Its exact cause is unknown, but present research points toward a genetic component, possibly following maternal genes. There is no statistical significance of the syndrome occurring in males or females.
less
enkele veel voorkomende symptomen
abnormale geslachtsorganen bij mannen
vroege puberteitsontwikkeling bij meisjes
gezicht misvormingen
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sommige gerelateerde diagnoses
1 - 2 of
2
diagnoses
Noonan's Syndroom
Robinow Syndroom
meer
heb ik 'Silver-Russell syndroom'?
Bovendien moeten de volgende diagnostische tests kunnen worden moeten helpen controleren of de diagnose:
diagnostische test zoekresultaten voor 'silver-russell syndroom'
1 - 4 of
4
diagnostische tests
X-ray handen
Silver-Russell syndroom en X-ray handen
botleeftijd
Silver-Russell syndroom en botleeftijd
Moleculair genetische studies
Silver-Russell syndroom en Moleculair genetische studies
X-stralen
Silver-Russell syndroom en X-stralen
therapeutische procedures voor 'Silver-Russell syndroom'?
Beheren of de behandeling van een ziekte moet altijd worden bepaald door een patiënten zorgverstrekker. Hieronder is een lijst van de bijbehorende procedures of therapeutische medicijnen voor Silver-Russell Syndrome:
therapeutische procedure zoekresultaten voor 'silver-russell syndroom'
1 - 4 of
4
therapeutische procedures
rankings zijn computer gegenereerd. raadpleeg uw zorgverlener.
Enterale voeding
Silver-Russell syndroom en Enterale voeding
Sondevoeding
Silver-Russell syndroom en Sondevoeding
Fysieke en bezigheidstherapie
Arthritis Physical and Occupational Therapy
Silver-Russell syndroom en Fysieke en bezigheidstherapie
Speciaal Onderwijs
Silver-Russell syndroom en Speciaal Onderwijs
medicatie zoekresultaten voor 'silver-russell syndroom'
1 - 2 of
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medicatie
rankings zijn computer gegenereerd. raadpleeg uw zorgverlener.
Groeihormoon
Silver-Russell syndroom en Groeihormoon
somatropin
(a.k.a somatropin, Humatrope)
Silver-Russell syndroom en somatropin
zoekresultaten voor silver-russell syndroom
Web (Alle)
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Dieet
Resultaten
1 - 50
- RSS
Severe Silver-Russell syndrome and translocation (17;20) (q25;q13)
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1993 Jul;44(1):53-5. Severe Silver-Russell syndrome and translocation (17;20) (q25;q13) ... month-old girl with Silver-Russell syndrome (SRS) and a paternally ...
http://www.ncbi.nlm.nih.gov/pubmed/1633648
www.ncbi.nlm.nih.gov
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summary
Epigenetic Regulation of Growth: Lessons from Silver-Russell Syndrome.
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... Regulation of Growth: Lessons from Silver-Russell Syndrome. Eggermann T. ... A prominent imprinting disorder, Silver-Russell syndrome (SRS), is a congenital ...
http://www.ncbi.nlm.nih.gov/pubmed/19293571?ordinalpos=10&it...
www.ncbi.nlm.nih.gov
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summary
Evidence against a major role of PEG1/MEST in Silver-Russell syndrome.
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Silver-Russell syndrome (SRS) is a heterogeneous disorder characterised by ... a role of PEG1/MEST in the majority of Silver-Russell syndrome cases. Mesh Terms: ...
http://www.ncbi.nlm.nih.gov/pubmed/9781054
www.ncbi.nlm.nih.gov
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Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome.
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... 543-5. Duplication of 7p11.2-p13, including GRB10, in Silver-Russell syndrome. ... Silver-Russell syndrome (SRS) is characterized by pre- and postnatal growth ...
http://www.ncbi.nlm.nih.gov/pubmed/10631135?ordinalpos=1&ito...
www.ncbi.nlm.nih.gov
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summary
Monozygotic female twins discordant for Silver-Russell syndrome and ...
[
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... twins discordant for Silver-Russell syndrome and hypomethylation of the ... Silver-Russell syndrome (SRS) is characterized by growth failure and dysmorphic ...
http://www.ncbi.nlm.nih.gov/pubmed/18709478?dopt=Abstract
www.ncbi.nlm.nih.gov
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summary
Clinically distinct epigenetic subgroups in Silver-Russell syndrome ...
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... distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 ... been reported hypomethylated in 20-65% of Silver-Russell syndrome (SRS) patients. ...
http://www.ncbi.nlm.nih.gov/pubmed/19017756?dopt=Abstract
www.ncbi.nlm.nih.gov
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Russell-Silver syndrome - References - Genetics Home Reference
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... mutations in 11p15 in Silver-Russell syndrome are restricted to the ... Russell-Silver ... Silver-Russell syndrome: a dissection of the genetic ...
http://ghr.nlm.nih.gov/condition=russellsilversyndrome/show/References
ghr.nlm.nih.gov
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Orphanet: Silver Russell syndrome
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Silver-Russell syndrome. Orpha number. ORPHA813. Prevalence of rare diseases ... Silver-Russell syndrome is characterized by growth retardation with antenatal ...
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=813
www.orpha.net
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MedlinePlus Medical Encyclopedia: Topics beginning with Si-Sp
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Sideropenic dysphagia see Plummer-Vinson syndrome/esophageal web ... Silver-Russell syndrome see Russell-Silver syndrome. Silver syndrome see Russell-Silver syndrome ...
http://www.nlm.nih.gov/medlineplus/ency/encyclopedia_Si-Sp.htm
www.nlm.nih.gov
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Russell-Silver syndrome
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Russell-Silver syndrome is a disorder present at birth that involves ... Skeletal survey (to rule out other conditions that may mimic Russell-Silver syndrome) ...
http://adam.about.com/HIE/001209.htm
adam.about.com
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summary
Silver-Russell dwarfism - Wikipedia, the free encyclopedia
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Growth hormone therapy in Silver Russell syndrome: 5 years experience of the ... Russell-Silver Syndrome Support - www.rss-support.nl. v ? d ? e ...
http://en.wikipedia.org/wiki/Silver-Russell_dwarfism
en.wikipedia.org
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Russell Silver Syndrome (RSS) - Yahoo! Health
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Important It is possible that the main title of the report Russell Silver Syndrome (RSS) is not the name you expected. Please check the synonyms listing to find the ...
http://health.yahoo.com/other-other/russell-silver-syndrome-...
health.yahoo.com
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Chromosome 11 - References - Genetics Home Reference
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... Preece M, Stanier P, Moore G. The genetic aetiology of Silver-Russell syndrome. J Med Genet. ... Silver-Russell syndrome is genetically opposite to ...
http://ghr.nlm.nih.gov/chromosome=11/show/References
ghr.nlm.nih.gov
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Russell-Silver syndrome
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Rusell-Silver syndrome is a congenital disease (present at birth) characterized by and, frequently, asymmetry in the size of the two halves or other parts of the body.
http://adam.about.com/encyclopedia/001209trt.htm
adam.about.com
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summary
MedlinePlus Medical Encyclopedia: Russell-Silver syndrome
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Russell-Silver syndrome is a disorder present at birth that involves ... Skeletal survey (to rule out other conditions that may mimic Russell-Silver syndrome) ...
http://www.nlm.nih.gov/medlineplus/ency/article/001209.htm
www.nlm.nih.gov
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H19 - References - Genetics Home Reference
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... Moore G. The genetic aetiology of Silver-Russell syndrome. J Med Genet. ... gene causes not only Silver-Russell syndrome (SRS) but also isolated asymmetry ...
http://ghr.nlm.nih.gov/gene=h19/show/References
ghr.nlm.nih.gov
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WebMD Health A-Z - Find reliable health and medical information on ...
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Find a comprehensive index of trusted health and medical information. It is your ultimate guide to reliable ... Silver Syndrome. Silver-Russell Dwarfism ...
http://www.webmd.com/a-to-z-guides/health-topics/sf-sj.htm
www.webmd.com
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Norton - ADAM
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Rubinstein-Taybi syndrome. Russell-Silver syndrome. Sanfilippo syndrome. Schilder-Addison Complex ... Silver syndrome. Silver-Russell syndrome. Spherocytosis ...
http://nortonhealthcare.adam.com/content.aspx?productId=112&...
nortonhealthcare.adam.com
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The natural history of the Silver-Russell syndrome: a longitudinal ...
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... history of the Silver-Russell syndrome: a longitudinal study of ... growth of 39 children with Silver-Russell syndrome has been followed for 1-13 years. ...
http://www.ncbi.nlm.nih.gov/pubmed/168551
www.ncbi.nlm.nih.gov
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Disease Reference
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Severe acute respiratory syndrome (SARS) Sex - delayed ejaculation. Sex cord tumor ... Silver syndrome. Silver-Russell syndrome. Simple pulmonary eosinophilia ...
http://adam.about.com/encyclopedia/diseidxs.htm
adam.about.com
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Chromosome 7 - References - Genetics Home Reference
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... Preece M, Stanier P, Moore G. The genetic aetiology of Silver-Russell syndrome. J Med Genet. ... delay in Saethre-Chotzen syndrome is associated with TWIST ...
http://ghr.nlm.nih.gov/chromosome=7/show/References
ghr.nlm.nih.gov
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The genetic aetiology of Silver-Russell syndrome.
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Silver-Russell syndrome (SRS MIM180860) is a disorder characterised by ... Syndrome. Uniparental Disomy. Grant Support: Medical Research Council/United Kingdom ...
http://www.ncbi.nlm.nih.gov/pubmed/18156438?ordinalpos=1&ito...
www.ncbi.nlm.nih.gov
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Fountain syndrome - Wikipedia, the free encyclopedia
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Fountain syndrome is an autosomal recessive congenital disorder ... · Robinow syndrome · Silver-Russell dwarfism · Seckel syndrome · Smith-Lemli-Opitz ...
http://en.wikipedia.org/wiki/Fountain_syndrome
en.wikipedia.org
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Russell-Silver syndrome - Genetics Home Reference
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Russell-Silver syndrome is a growth disorder characterized by slow growth before ... Adults with Russell-Silver syndrome are short; the average height for affected ...
http://ghr.nlm.nih.gov/condition=russellsilversyndrome
ghr.nlm.nih.gov
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summary
Nail-patella syndrome - Wikipedia, the free encyclopedia
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Nail-patella syndrome (NPS) is a genetic disorder that results in small, poorly ... · Robinow syndrome · Silver-Russell dwarfism · Seckel syndrome · Smith-Lemli-Opitz ...
http://en.wikipedia.org/wiki/Nail-patella_syndrome
en.wikipedia.org
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The endocrine phenotype in silver-russell syndrome is defined by the ...
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The endocrine phenotype in silver-russell syndrome is defined by the underlying ... 50% of children with Silver-Russell syndrome (SRS) carry a hypomethylation of ...
http://www.ncbi.nlm.nih.gov/pubmed/18230663?ordinalpos=5&ito...
www.ncbi.nlm.nih.gov
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summary
Russell-Silver syndrome - Educational resources - Information pages ...
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Genetic Conditions > Russell-Silver syndrome > Educational resources ... in the Genetics Home Reference condition summary on Russell-Silver syndrome. ...
http://ghr.nlm.nih.gov/condition=russellsilversyndrome/show/...
ghr.nlm.nih.gov
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summary
Russell-Silver syndrome - MedlinePlus - Health information - Genetics ...
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Genetic Conditions > Russell-Silver syndrome > MedlinePlus - Health information ... summary on Russell-Silver syndrome. Encyclopedia: Russell-Silver syndrome ...
http://ghr.nlm.nih.gov/condition=russellsilversyndrome/show/MedlinePlus
ghr.nlm.nih.gov
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Russell-Silver syndrome - Related Chromosome(s) - Genetics Home Reference
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Genetic Conditions > Russell-Silver syndrome > Related Chromosome(s) chromosome 7 ... Lister Hill National Center for Biomedical Communications ...
http://ghr.nlm.nih.gov/condition=russellsilversyndrome/show/...
ghr.nlm.nih.gov
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Duplication of 7p12.1-p13, including GRB10 and IGFBP1, in a mother and ...
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... and IGFBP1, in a mother and daughter with features of Silver-Russell syndrome. ... Silver-Russell syndrome (SRS) has been associated with maternal uniparental ...
http://www.ncbi.nlm.nih.gov/pubmed/10987657?ordinalpos=7&ito...
www.ncbi.nlm.nih.gov
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summary
Russell-Silver syndrome - Related Gene(s) - Genetics Home Reference
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Genetic Conditions > Russell-Silver syndrome > Related Gene(s) ... Lister Hill National Center for Biomedical Communications. U.S. National Library of Medicine, ...
http://ghr.nlm.nih.gov/condition=russellsilversyndrome/show/Related+Gene(s)
ghr.nlm.nih.gov
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Holt-Oram syndrome - Wikipedia, the free encyclopedia
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Holt-Oram syndrome is caused by mutations in TBX5, a member of the ... · Robinow syndrome · Silver-Russell dwarfism · Seckel syndrome · Smith-Lemli-Opitz ...
http://en.wikipedia.org/wiki/Holt-Oram_syndrome
en.wikipedia.org
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PMID 11754049
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No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients. 225-31 Silver-Russell syndrome (SRS) is characterized by prenatal and postnatal ...
http://www.ncbi.nlm.nih.gov/pubmed/11754049
www.ncbi.nlm.nih.gov
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PMID 12161597
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... of the growth regulating gene IMP3, a candidate for Silver-Russell syndrome. ... RNA-Binding Proteins genetics Syndrome Uniparental Disomy genetics PMC1735212 ...
http://www.ncbi.nlm.nih.gov/pubmed/12161597
www.ncbi.nlm.nih.gov
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PubMed
[
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... uniparental disomy of chromosome 11 in a patient with Silver-Russell syndrome. 396-9 Silver-Russell syndrome (SRS) is a clinically heterogeneous disorder ...
http://www.ncbi.nlm.nih.gov/pubmed/18474587?dopt=AbstractPlus
www.ncbi.nlm.nih.gov
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Saethre-Chotzen syndrome - Wikipedia, the free encyclopedia
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Saethre-Chotzen syndrome, also known as acrocephalosyndactyly type 3 (ACS III) ... · Robinow syndrome · Silver-Russell dwarfism · Seckel syndrome · Smith-Lemli-Opitz ...
http://en.wikipedia.org/wiki/Saethre-Chotzen_syndrome
en.wikipedia.org
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summary
Russell-Silver syndrome - Patient support - For patients and families ...
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Genetic Conditions > Russell-Silver syndrome > Patient support - For patients ... in the Genetics Home Reference condition summary on Russell-Silver syndrome. ...
http://ghr.nlm.nih.gov/condition=russellsilversyndrome/show/Patient+support
ghr.nlm.nih.gov
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19066168 2009 03 02 1468-6244 46 3 2009 Mar J. Med. Genet. Epigenetic ...
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... IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large ... 192-7 BACKGROUND: Silver-Russell syndrome (SRS) is a clinically and genetically ...
http://www.ncbi.nlm.nih.gov/pubmed/19066168?ordinalpos=5&ito...
www.ncbi.nlm.nih.gov
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Russell-Silver Syndrome -- GeneReviews -- NCBI Bookshelf
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Russell-Silver syndrome (RSS) is characterized by intrauterine growth ... the extent of disease in an individual diagnosed with Russell-Silver syndrome (RSS) ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=rss
www.ncbi.nlm.nih.gov
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H19 - H19, imprinted maternally expressed transcript (non-protein ...
[
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Russell-Silver syndrome - associated with the H19 gene ... In Russell-Silver syndrome, the ICR1 region often has too few methyl groups ...
http://ghr.nlm.nih.gov/gene=h19
ghr.nlm.nih.gov
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OMIM Update List for November, 2002
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180860 SILVER-RUSSELL SYNDROME; SRS ... 180860 RUSSELL-SILVER SYNDROME; RSS. 181500 SCHIZOPHRENIA; SCZD. 192430 VELOCARDIOFACIAL SYNDROME ...
http://www.ncbi.nlm.nih.gov/Omim/dispmonthly.cgi?11.2002
www.ncbi.nlm.nih.gov
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Branchio-oto-renal syndrome - Wikipedia, the free encyclopedia
[
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Branchiootorenal syndrome from Gene Reviews. v ? d ? e ... · Robinow syndrome · Silver-Russell dwarfism · Seckel syndrome · Smith-Lemli-Opitz ...
http://en.wikipedia.org/wiki/Branchio-oto-renal_syndrome
en.wikipedia.org
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MIM Gene map
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Silver-Russell syndrome. 180860. Silver-Russell syndrome (2) ?17q23-q24; imprinting defect ... Shwachman-Bodian-Diamond syndrome, 260400 (3) Fd, REc. 7q11 ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?chromosome=7q21
www.ncbi.nlm.nih.gov
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MIM Gene map
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Protein. Genome. Structure. PopSet. Taxonomy. OMIM. Map Locations available for 180860. SRS, RSS Silver-Russell syndrome. H19, D11S813E, ASM1, BWS H19 gene ...
http://www.ncbi.nlm.nih.gov/Omim/getmap.cgi?l180860
www.ncbi.nlm.nih.gov
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Goldenhar syndrome - Wikipedia, the free encyclopedia
[
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Goldenhar syndrome among infants born in military hospitals to Gulf War ... · Robinow syndrome · Silver-Russell dwarfism · Seckel syndrome · Smith-Lemli-Opitz ...
http://en.wikipedia.org/wiki/Goldenhar_syndrome
en.wikipedia.org
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180860
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http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=180860
www.ncbi.nlm.nih.gov
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Chromosome 7 - Genetics Home Reference
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Russell-Silver syndrome ... cases of Russell-Silver syndrome, people inherit ... In cases of Russell-Silver syndrome caused by maternal UPD, an imbalance in ...
http://ghr.nlm.nih.gov/chromosome=7
ghr.nlm.nih.gov
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Priolo M, Sparago A, Mammì C, Cerrato F, Laganà C, Riccio A.
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... with both Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) ... Abnormalities, Multiple diagnosis genetics Beckwith-Wiedemann Syndrome diagnosis ...
http://www.ncbi.nlm.nih.gov/pubmed/18212817?ordinalpos=4&ito...
www.ncbi.nlm.nih.gov
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summary
IGF2 - insulin-like growth factor 2 (somatomedin A) - Genetics Home ...
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Russell-Silver syndrome - associated with the IGF2 gene ... In Russell-Silver syndrome, the ICR1 region often has too few methyl groups ...
http://ghr.nlm.nih.gov/gene=igf2
ghr.nlm.nih.gov
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summary
Keutel syndrome - Wikipedia, the free encyclopedia
[
Vertaal deze pagina
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Keutel syndrome is a rare autosomal recessive genetic disorder characterized by ... · Robinow syndrome · Silver-Russell dwarfism · Seckel syndrome · Smith-Lemli-Opitz ...
http://en.wikipedia.org/wiki/Keutel_syndrome
en.wikipedia.org
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summary
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