X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.

X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males.

We describe three males (two brothers and a cousin) who have the X linked alpha thalassaemia/mental retardation (ATR-X) syndrome. The diagnosis, originally suspected in the brothers because of similarity in dysmorphic features to previous cases, was confirmed haematologically in the surviving brothe...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Κύριοι συγγραφείς:	Wilkie, A, Gibbons, R, Higgs, D, Pembrey, M
Μορφή:	Journal article
Γλώσσα:	English
Έκδοση:	1991

Παρόμοια τεκμήρια

The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritance.
ανά: Wilkie, A, κ.ά.
Έκδοση: (1991)

A newly defined X linked mental retardation syndrome associated with alpha thalassaemia.
ανά: Gibbons, R, κ.ά.
Έκδοση: (1991)

Alpha thalassaemia-mental retardation, X linked
ανά: Gibbons, R
Έκδοση: (2006)

Alpha thalassaemia-mental retardation, X linked.
ανά: Gibbons, R
Έκδοση: (2006)

Alpha thalassaemia-mental retardation, X linked
ανά: Gibbons Richard
Έκδοση: (2006-05-01)

Alpha thalassaemia mental retardation (ATR-X): an atypical family.
ανά: Logie, L, κ.ά.
Έκδοση: (1994)

alpha-thalassaemia, X-linked mental retardation syndrome protein, ATRX, interacts with ribosomal genes.
ανά: Law, M, κ.ά.
Έκδοση: (2003)

The non-deletion alpha thalassaemia/mental retardation syndrome: further support for X linkage.
ανά: Donnai, D, κ.ά.
Έκδοση: (1991)

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.
ανά: Gibbons, R, κ.ά.
Έκδοση: (1992)

The alpha-thalassemia/mental retardation syndromes.
ανά: Gibbons, R, κ.ά.
Έκδοση: (1996)

X-linked alpha thalassaemia/mental retardation syndrome: a case with gonadal dysgenesis, caused by a novel mutation in ATRX gene.
ανά: Jezela-Stanek, A, κ.ά.
Έκδοση: (2009)

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).
ανά: Gibbons, R, κ.ά.
Έκδοση: (1995)

Alpha-thalassaemia.
ανά: Harteveld, C, κ.ά.
Έκδοση: (2010)

The alpha thalassaemias.
ανά: Higgs, D, κ.ά.
Έκδοση: (2009)

Male pseudohermaphroditism in sibs with the alpha-thalassemia/mental retardation (ATR-X) syndrome.
ανά: Reardon, W, κ.ά.
Έκδοση: (1995)

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression.
ανά: McPherson, E, κ.ά.
Έκδοση: (1995)

ATR-X: α-Thalassemia Mental Retardation-X-Linked
ανά: Gibbons, R
Έκδοση: (2010)

Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).
ανά: Gibbons, R, κ.ά.
Έκδοση: (1995)

Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome?
ανά: Saugier-Veber, P, κ.ά.
Έκδοση: (1995)

The interaction of alpha thalassaemia and sickle cell-beta zero thalassaemia.
ανά: Vyas, P, κ.ά.
Έκδοση: (1988)

Alpha thalassaemia in British people.
ανά: Higgs, D, κ.ά.
Έκδοση: (1985)

The role of X-inactivation in the gender bias of patients with acquired alpha-thalassaemia and myelodysplastic syndrome (ATMDS).
ανά: Haas, P, κ.ά.
Έκδοση: (2009)

The α-thalassemia/mental retardation syndromes
ανά: Gibbons, R, κ.ά.
Έκδοση: (1996)

Defining the cause of skewed X-chromosome inactivation in X-linked mental retardation by use of a mouse model.
ανά: Muers, MR, κ.ά.
Έκδοση: (2007)

The genetic basis for mental retardation.
ανά: Raynham, H, κ.ά.
Έκδοση: (1996)

Alpha-thalassaemia caused by a polyadenylation signal mutation.
ανά: Higgs, D, κ.ά.
Έκδοση: (1983)

Alpha-thalassaemia in Nigeria: Its interaction with sickle-cell disease
ανά: Falusi, A, κ.ά.
Έκδοση: (2009)

THE ALPHA-3.7 AND ALPHA-4.2 DELETION FORMS OF ALPHA+-THALASSAEMIA DIFFER IN SEVERITY
ανά: Hill, A, κ.ά.
Έκδοση: (1985)

THE USE OF EXCLUSION MAPPING TO DEFINE THE SEGMENT OF 16P13.3 INVOLVED IN THE ALPHA-THALASSEMIA MENTAL-RETARDATION SYNDROME
ανά: Raynham, H, κ.ά.
Έκδοση: (1993)

Screening of Alpha-Thalassaemia 1 in Beta-Thalassaemia Carriers
ανά: Chong, Yi Min
Έκδοση: (2005)

Thalassaemia.
ανά: Higgs, D, κ.ά.
Έκδοση: (2012)

Thalassaemia
ανά: Higgs, D, κ.ά.
Έκδοση: (2011)

X-Linked Mental Retardation and Epilepsy Syndrome
ανά: J Gordon Millichap
Έκδοση: (2002-01-01)

Screening of concurrent alpha-Thalassaemia 1 in beta-Thalassaemia carriers
ανά: Chong, Y.M., κ.ά.
Έκδοση: (2006)

The interaction of alpha thalassaemia with malaria.
ανά: Oppenheimer, S, κ.ά.
Έκδοση: (1987)

Alpha-thalassaemia and the malaria hypothesis.
ανά: Hill, A, κ.ά.
Έκδοση: (1987)

α-thalassaemia
ανά: Higgs Douglas R, κ.ά.
Έκδοση: (2010-05-01)

The genetics of mental retardation.
ανά: Flint, J, κ.ά.
Έκδοση: (1996)

Hb H hydrops fetalis syndrome associated with the interaction of two common determinants of alpha thalassaemia (--MED/(alpha)TSaudi(alpha)).
ανά: Viprakasit, V, κ.ά.
Έκδοση: (2002)

Syndromal mental retardation due to mutations in a regulator of gene expression.
ανά: Gibbons, R, κ.ά.
Έκδοση: (1995)