Search Results

Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hünermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature.

• Authors : Cañueto J; Department of Dermatology, University Hospital of Salamanca, Salamanca, Spain. ; Girós M

Subjects: Chondrodysplasia Punctata/Chondrodysplasia Punctata/Chondrodysplasia Punctata/*genetics ; Genetic Diseases, X-Linked/Genetic Diseases, X-Linked/Genetic Diseases, X-Linked/*genetics ; Mutation/Mutation/Mutation/*genetics

• Source: The British journal of dermatology [Br J Dermatol] 2012 Apr; Vol. 166 (4), pp. 830-8. Date of Electronic Publication: 2012 Mar 02.Publisher: Oxford University Press Country of Publication: England NLM ID: 0004041 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy.

• Authors : Juan-Mateu, Jonàs; Rodríguez, Maria Josñ; Nascimento, Andrñs

• Source: Orphanet Journal of Rare Diseases. October 23, 2012, Vol. 7.

Record details

May anomalous X chromosome methylation be responsible for the spontaneous abortion of a male foetus?

• Authors : MARTÍNEZ, R.^1,2; BONILLA-HENAO, V.^1,2; RAMOS, I.³

Subjects: *METHYLATION; *X chromosome; *MISCARRIAGESPAIN

• Source: Journal of Genetics. Dec2008, Vol. 87 Issue 3, p261-264. 4p. 1 Black and White Photograph.

Record details

Brief Report: Evidence of Autism Spectrum Disorder Caused by a Mutation in ATRX Gene: A Case Report.

• Authors : López-Garrido, María-Pilar; Carrascosa-Romero, María-Carmen; Montero-Hernández, Minerva

Subjects: DIAGNOSIS of autism; BRAIN; GENETIC mutationSPAIN

• Source: Journal of Autism & Developmental Disorders; Jan2024, Vol. 54 Issue 1, p379-388, 10p

Record details

The Spanish Fabry women study: a retrospective observational study describing the phenotype of females with GLA variants.

• Authors : Sánchez, Rosario; Ripoll-Vera, Tomás; López-Mendoza, Manuel

Subjects: X chromosome; SPANIARDS; PERIPHERAL nervous systemSPAIN

• Source: Orphanet Journal of Rare Diseases; 1/9/2023, Vol. 18 Issue 1, p1-10, 10p

Record details

Genetic and Non-genetic Predictors of LINE-1 Methylation in Leukocyte DNA.

• Authors : Tajuddin, Salman M.¹; Amaral, André F. S.¹; Fernández, Agustín F.²

Subjects: *Trace element analysis; *Mass spectrometry; *SmokingSpain

• Source: Environmental Health Perspectives. Jun2013, Vol. 121 Issue 6, p650-656. 7p. 3 Charts.

Record details

Gender Differences in the Application of Spanish Criteria for Initiation of Enzyme Replacement Therapy for Fabry Disease in the Fabry Outcome Survey.

• Authors : Barba-Romero, Miguel-Ángel; Pintos-Morell, Guillem

Subjects: ENZYMES; ANGIOKERATOMA corporis diffusum; POPULATIONSPAIN

• Source: International Journal of Molecular Sciences; Dec2016, Vol. 17 Issue 12, p1965, 11p, 2 Charts, 1 Graph

Record details

The histone variant macroH2A is an epigenetic regulator of key developmental genes.

• Authors : Buschbeck, Marcus; Uribesalgo, Iris; Wibowo, Indra

• Source: Nature Structural and Molecular Biology. October, 2009, Vol. 16 Issue 10, p1074, 7 p.

Record details

Inbreeding Coefficients for X-linked and Autosomal Genes in Consanguineous Marriages in Spanish Populations: The Case of Guipúzcoa (Basque Country).

• Authors : Calderón, R.; Aresti, U.; Ambrosio, B.

Subjects: INBREEDING; CONSANGUINITY; MARRIAGEGUIPUZCOA (Spain); SPAIN; ITALY

• Source: Annals of Human Genetics; Mar2009, Vol. 73 Issue 2, p184-195, 12p, 1 Diagram, 3 Charts, 2 Graphs, 1 Map

Record details

How epigenetics integrates nuclear functions.

• Authors : Esteller, Manel; Almouzni, Geneviève

Subjects: EPIGENESIS; GENETICS; CHROMATINMADRID (Spain); SPAIN

• Source: EMBO Reports; Jul2005, Vol. 6 Issue 7, p624-628, 5p

Record details