Occurrence of Rett syndrome in boys

scientific article published in May 2001

Occurrence of Rett syndrome in boys is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1177/088307380101600505
P698PubMed publication ID11392517

P2093author name stringH Leonard
R Falk
C Schanen
C Ellaway
J Silberstein
I Houwink-Manville
I W Engerström
L S Raffaele
P2860cites workMale Rett variantQ48823346
EEG development in Rett syndrome. A study of 30 casesQ50307471
Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients.Q52168328
MECP2 mutations account for most cases of typical forms of Rett syndrome.Q52922025
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.Q54493491
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2Q22337290
A simple salting out procedure for extracting DNA from human nucleated cellsQ27861086
Recent insights into hyperventilation from the study of Rett syndrome.Q33543759
Male Rett syndrome variant: application of diagnostic criteriaQ33596633
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspotsQ34146268
A new Rett syndrome family consistent with X-linked inheritance expands the X chromosome exclusion map.Q35249570
Mutation screening in Rett syndrome patients.Q35434415
Rett syndrome: the late infantile regression period--a retrospective analysis of 91 casesQ35780882
Early clinical signs in the Rett disorderQ40416778
Rett syndrome: Criteria for inclusion and exclusionQ40562627
A severely affected male born into a Rett syndrome kindred supports X-linked inheritance and allows extension of the exclusion map.Q43217591
Rett syndrome: confirmation of X-linked dominant inheritance, and localization of the gene to Xq28.Q43217978
Rett syndrome in a boy with a 47,XXY karyotypeQ43218508
Rett's syndrome. Correlation of electroencephalographic characteristics with clinical stagingQ44971794
Patterns of pregnancy loss, perinatal mortality, and postneonatal childhood deaths in families of girls with Rett syndrome.Q46355799
Neonatal encephalopathy in two boys in families with recurrent Rett syndromeQ48453353
P433issue5
P921main subjectRett syndromeQ917357
P304page(s)333-338
P577publication date2001-05-01
P1433published inJournal of Child NeurologyQ6294935
P1476titleOccurrence of Rett syndrome in boys
P478volume16

Reverse relations

cites work (P2860)
Q38359244A novel hypomorphic MECP2 point mutation is associated with a neuropsychiatric phenotype
Q48573215Abnormalities of social interactions and home-cage behavior in a mouse model of Rett syndrome
Q41937036Acquired microcephaly, regression of milestones, mitochondrial dysfunction, and episodic rigidity in a 46,XY male with a de novo MECP2 gene mutation
Q37962183Algorithmic approach for methyl-CpG binding protein 2 (MECP2) gene testing in patients with neurodevelopmental disabilities
Q92680792Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant
Q38562939Brief report: systematic review of Rett syndrome in males
Q51109290Communication and eating proficiency in 125 females with Rett syndrome: The Swedish Rett Center Survey.
Q35273721Describing the phenotype in Rett syndrome using a population database
Q36286566Does genotype predict phenotype in Rett syndrome?
Q37223574Feeding and swallowing dysfunction in genetic syndromes
Q51946326MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.
Q36757032MECP2 mutations in males.
Q51946429MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications.
Q36286542MeCP2 dysfunction in humans and mice
Q36286538Molecular diagnosis of Rett syndrome
Q28188406Mutations and polymorphisms in the human methyl CpG-binding protein MECP2
Q41938321Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients
Q33910551Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.
Q28180155Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2)
Q51958928Polymorphisms in the C-terminal domain of MECP2 in mentally handicapped boys: implications for genetic counselling.
Q34460580Rethinking the fate of males with mutations in the gene that causes Rett syndrome
Q90416608Rett Syndrome in Males: A Case Report and Review of Literature
Q92876785Rett Syndrome in Males: The Different Clinical Course in Two Brothers with the Same Microduplication MECP2 Xq28
Q55056221Rett Syndrome.
Q27337778Rett Syndrome: Reaching for Clinical Trials
Q24616417Rett syndrome and MeCP2: linking epigenetics and neuronal function
Q38330698Rett syndrome molecular diagnosis and implications in genetic counseling
Q35077740Rett syndrome. Current status and new vistas
Q28255289Rett syndrome: a prototypical neurodevelopmental disorder
Q36545755Rett syndrome: new clinical and molecular insights.
Q37162573Severe congenital encephalopathy caused by MECP2 null mutations in males: central hypoxia and reduced neuronal dendritic structure.
Q33762214The role of MeCP2 in brain development and neurodevelopmental disorders
Q37371802Training communication abilities in Rett Syndrome through reading and writing.
Q36109138X-linked mental retardation: further lumping, splitting and emerging phenotypes

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