Occurrence of Rett Syndrome in Boys

A simple salting out procedure for extracting DNA from human nucleated cells

1988 • 20,341 citations

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

1999 • 4,776 citations

Rett Syndrome and Beyond: Recurrent Spontaneous and Familial MECP2 Mutations at CpG Hotspots

1999 • 502 citations

Diagnostic criteria for rett syndrome

1988 • 394 citations

Rett Syndrome: A suggested staging system for describing impairment profile with increasing age towards adolescence

1986 • 376 citations

Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes

2000 • 334 citations

MECP2 mutations account for most cases of typical forms of Rett syndrome

2000 • 296 citations

Rett syndrome: Criteria for inclusion and exclusion

1985 • 287 citations

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location

2000 • 282 citations

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients

2000 • 244 citations

Rett syndrome—Clinical studies and pathophysiological consideration

1984 • 125 citations

A New Rett Syndrome Family Consistent with X-Linked Inheritance Expands the X Chromosome Exclusion Map

1997 • 115 citations

The Pattern of Growth Failure in Rett Syndrome

1993 • 112 citations

Mutation screening in Rett syndrome patients

2000 • 110 citations

Neonatal Encephalopathy in Two Boys in Families With Recurrent Rett Syndrome

1998 • 93 citations

Extrapyramidal involvement in Rett's syndrome

1990 • 90 citations

High male:female ratio of germ-line mutations: an alternative explanation for postulated gestational lethality in males in X-linked dominant disorders.

1996 • 89 citations

Rett syndrome—An early catecholamine and indolamine deficient disorder?

1985 • 87 citations

Early Clinical Signs in the Rett Disorder

1995 • 79 citations

Functional evidence of brain stem immaturity in Rett syndrome.

1997 • 75 citations

Rett's Syndrome

1987 • 75 citations

Recent insights into hyperventilation from the study of Rett syndrome

1999 • 71 citations

The hands, and the mind, pre- and post-regression in rett syndrome

1987 • 69 citations

EEG development in Rett syndrome. A study of 30 cases

1989 • 64 citations

Age-related occurrence of signs and symptoms in the Rett syndrome.

1992 • 53 citations

Rett syndrome in Sweden. Neurodevelopment--disability--pathophysiology.

1990 • 49 citations

Male Rett syndrome variant: application of diagnostic criteria

1999 • 49 citations

Rett syndrome: Studies of 13 affected girls

1986 • 47 citations

Rett syndrome: A retrospective pilot study on potential early predictive symptomatology

1987 • 46 citations

Cytogenetic and molecular-cytogenetic investigation of Rett syndrome

1996 • 38 citations

Pathophysiology of rett syndrome

1987 • 38 citations

Motor symptoms of the Rett syndrome: abnormal muscle tone, posture, locomotion and stereotyped movement.

1992 • 35 citations

The Rett syndrome in males

1990 • 34 citations

Mother and daughter with Rett syndrome.

1992 • 34 citations

Rett syndrome: the late infantile regression period‐a retrospective analysis of 91 cases

1992 • 33 citations

Head growth in Rett syndrome

2000 • 32 citations

Male Rett Variant

1995 • 28 citations

Is classical Rett syndrome ever present in males?

1990 • 28 citations

A boy with the Rett syndrome?

1990 • 24 citations

Patterns of Pregnancy Loss, Perinatal Mortality, and Postneonatal Childhood Deaths in Families of Girls With Rett Syndrome

1999 • 16 citations

Diagnosis of Rett syndrome: can a radiograph help?

1998 • 14 citations

Letters To The Editor

1992 • 11 citations