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Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28.

• Authors : Reardon W; Regional Hospital, Dooradoyle, Limerick, Ireland. ; Donoghue V

Subjects: Gene Duplication* ; X Chromosome Inactivation*; Brain/Brain/Brain/*diagnostic imaging

• Source: European journal of pediatrics [Eur J Pediatr] 2010 Aug; Vol. 169 (8), pp. 941-9. Date of Electronic Publication: 2010 Feb 23.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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X chromosome inactivation analysis to distinguish sporadic cases of X-linked agammaglobulinaemia from common variable immunodeficiency

• Authors : Tsuge, I.; Matsuoka, H.; Abe, T.

• Source: European Journal of Pediatrics; November 1993, Vol. 152 Issue: 11 p900-904, 5p

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Symptoms of OTC deficiency but not DMD in a female carrier of an Xp21.1 deletion including the genes for dystrophin and OTC.

• Authors : Jakubiczka, Sibylle¹ ; Bettecken, Thomas^1,2; Mohnike, Klaus³

Subjects: *ORNITHINE carbamoyltransferase deficiency; *DYSTROPHIN genes; *COGNITIVE development

• Source: European Journal of Pediatrics. Jul2007, Vol. 166 Issue 7, p743-745. 3p. 1 Diagram.

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Severe X-linked chronic granulomatous disease in two unrelated females.

• Authors : Chollet-Martin, Sylvie; Lopez, Anne; Gaud, Catherine

Subjects: CHRONIC granulomatous disease; IMMUNODEFICIENCY; NAD (Coenzyme)

• Source: European Journal of Pediatrics. Feb2007, Vol. 166 Issue 2, p153-159. 7p. 1 Diagram, 2 Charts, 1 Graph.

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Novel and recurrent variants in AVPR2 in 19 families with X-linked congenital nephrogenic diabetes insipidus.

• Authors : Joshi, Shivani; Kvistgaard, Helene; Kamperis, Konstantinos

Subjects: VASOPRESSIN; POLYURIA; POLYDIPSIA

• Source: European Journal of Pediatrics. Sep2018, Vol. 177 Issue 9, p1399-1405. 7p. 2 Charts.

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Short stature in child with early-onset diabetes.

• Authors : Hawkes, C P (AUTHOR); McGlacken-Byrne, S M (AUTHOR); Murphy, N P (AUTHOR)

• Source: European Journal of Pediatrics. Sep2013, Vol. 172 Issue 9, p1255-1257. 3p.

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Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study.

• Authors : García Castaño, Alejandro; Pérez de Nanclares, Gustavo; Madariaga, Leire

Subjects: COMPARATIVE studies; DISEASE susceptibility; DNA

• Source: European Journal of Pediatrics. Oct2015, Vol. 174 Issue 10, p1373-1385. 13p. 4 Diagrams, 4 Charts.

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Immune dysregulation in autism spectrum disorder.

• Authors : Noriega, Daniela; Savelkoul, Huub

Subjects: AUTISM spectrum disorders in children; JUVENILE diseases; DISEASE susceptibility

• Source: European Journal of Pediatrics. Jan2014, Vol. 173 Issue 1, p33-43. 11p. 1 Diagram, 1 Chart.

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Genodermatoses caused by genetic mosaicism.

• Authors : Vreeburg, M.; Steensel, M.

Subjects: SKIN disease genetics; MOSAICISM; GENETIC disorders

• Source: European Journal of Pediatrics. Dec2012, Vol. 171 Issue 12, p1725-1735. 11p. 6 Color Photographs, 1 Diagram.

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Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls.

• Authors : Burton, Barbara; Giugliani, Roberto

Subjects: PEDIATRICS; MUCOPOLYSACCHARIDOSIS; LYSOSOMAL storage diseases

• Source: European Journal of Pediatrics. Apr2012, Vol. 171 Issue 4, p631-639. 9p.

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