Search Results - "Botella MP"

Letters. Stories at evidence -- or maybe not?

Authors: Cohain JS Botella MP Downe S

Source: British Journal of Midwifery. Dec2006, Vol. 14 Issue 12, p738-738. 1p.

URL: 23595217

A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism.

Authors: Tejada MI Elcoroaristizabal X Ibarluzea N et al.

Source: Clinical genetics [Clin Genet] 2019 Feb; Vol. 95 (2), pp. 339-340. Date of Electronic Publication: 2018 Nov 20.

Publication Type: Letter; Research Support, Non-U.S. Gov't; Twin Study

Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him with CHARGE Syndrome.

Authors: Villate O Ibarluzea N Fraile-Bethencourt E et al.

Source: Frontiers in genetics [Front Genet] 2018 Jan 26; Vol. 9, pp. 7. Date of Electronic Publication: 2018 Jan 26 (Print Publication: 2018).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Infectious and immunologic phenotype of MECP2 duplication syndrome.

Authors: Bauer M Kölsch U Krüger R et al.

Source: Journal of clinical immunology [J Clin Immunol] 2015 Feb; Vol. 35 (2), pp. 168-81. Date of Electronic Publication: 2015 Feb 27.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE

Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.

Authors: Rice GI Reijns MA Coffin SR et al.

Source: Human mutation [Hum Mutat] 2013 Aug; Vol. 34 (8), pp. 1066-70. Date of Electronic Publication: 2013 May 13.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.

Authors: Codina-Solà M Rodríguez-Santiago B Homs A et al.

Source: Molecular autism [Mol Autism] 2015 Apr 15; Vol. 6, pp. 21. Date of Electronic Publication: 2015 Apr 15 (Print Publication: 2015).

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101534222 Publication Model: eCollection Cited Medium: Print ISSN: 2040-2392 (Print) NLM ISO Abbreviation: Mol Autism Subsets: PubMed not MEDLINE

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.

Authors: Rice GI Forte GM Szynkiewicz M et al.

Source: The Lancet. Neurology [Lancet Neurol] 2013 Dec; Vol. 12 (12), pp. 1159-69. Date of Electronic Publication: 2013 Oct 30.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Lancet Pub. Group Country of Publication: England NLM ID: 101139309 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1474-4465 (Electronic) Linking ISSN: 14744422 NLM ISO Abbreviation: Lancet Neurol Subsets: MEDLINE

MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).

Authors: Maortua H Martínez-Bouzas C García-Ribes A et al.

Source: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2013 Sep; Vol. 15 (5), pp. 723-9. Date of Electronic Publication: 2013 Jun 26.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-7811 (Electronic) Linking ISSN: 15251578 NLM ISO Abbreviation: J Mol Diagn Subsets: MEDLINE

Xq28 duplications including MECP2 in five females: Expanding the phenotype to severe mental retardation.

Authors: Bijlsma EK Collins A Papa FT et al.

Source: European journal of medical genetics [Eur J Med Genet] 2012 Jun; Vol. 55 (6-7), pp. 404-13. Date of Electronic Publication: 2012 Mar 29.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE

[Nurses and psychologists working in tandem in oncology].

Transliterated Title: Un binôme infirmière et psychologue en cancérologie.

Authors: Cludy L Botella MP

Source: Revue de l'infirmiere [Rev Infirm] 2012 Feb (178), pp. 33-4.

Publication Type: English Abstract; Journal Article

Journal Info: Publisher: Elsevier Masson Country of Publication: France NLM ID: 1267175 Publication Model: Print Cited Medium: Print ISSN: 1293-8505 (Print) Linking ISSN: 12938505 NLM ISO Abbreviation: Rev Infirm

[Generalized epileptic seizures in an infant due to passive exposure to cocaine].

Transliterated Title: Crisis epilépticas generalizadas asociadas a intoxicación pasiva por cocaína en un lactante.

Authors: Aguilera S Salado C Díaz López I et al.

Source: Anales del sistema sanitario de Navarra [An Sist Sanit Navar] 2009 Sep-Dec; Vol. 32 (3), pp. 453-6.

Publication Type: Case Reports; English Abstract; Journal Article

Journal Info: Publisher: Gobierno de Navarra, Departamento de Salud Country of Publication: Spain NLM ID: 9710381 Publication Model: Print Cited Medium: Internet ISSN: 2340-3527 (Electronic) Linking ISSN: 11376627 NLM ISO Abbreviation: An Sist Sanit Navar Subsets: MEDLINE

[Paraneoplastic opsoclonus myoclonus ataxia syndrome].

Transliterated Title: Síndrome opsoclono-mioclono-atáxico paraneoplásico.

Authors: Aguilera Albesa S Botella MP Salado C et al.

Source: Anales del sistema sanitario de Navarra [An Sist Sanit Navar] 2009 Jan-Apr; Vol. 32 (1), pp. 91-5.

Publication Type: Case Reports; English Abstract; Journal Article

Journal Info: Publisher: Gobierno de Navarra, Departamento de Salud Country of Publication: Spain NLM ID: 9710381 Publication Model: Print Cited Medium: Print ISSN: 1137-6627 (Print) Linking ISSN: 11376627 NLM ISO Abbreviation: An Sist Sanit Navar Subsets: MEDLINE

[Neurofibromatosis type 1 and optic pathway gliomas. A series of 80 patients].

Transliterated Title: Neurofibromatosis tipo 1 y gliomas de vías ópticas. Una serie de 80 pacientes.

Authors: Pascual-Castroviejo I Pascual-Pascual SI Velázquez-Fragua R et al.

Source: Revista de neurologia [Rev Neurol] 2008 May 1-15; Vol. 46 (9), pp. 530-6.

Publication Type: English Abstract; Journal Article

Journal Info: Publisher: IMR Press Country of Publication: Singapore NLM ID: 7706841 Publication Model: Print Cited Medium: Internet ISSN: 1576-6578 (Electronic) Linking ISSN: 02100010 NLM ISO Abbreviation: Rev Neurol Subsets: MEDLINE

Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature.

Authors: Vasudevan PC Garcia-Minaur S Botella MP et al.

Source: Clinical dysmorphology [Clin Dysmorphol] 2005 Jul; Vol. 14 (3), pp. 109-116.

Publication Type: Case Reports; Journal Article; Review

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print Cited Medium: Print ISSN: 0962-8827 (Print) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE

Further case of aminopterin syndrome sine aminopterin in a Spanish child.

Authors: Garcia-Minaur S Botella MP

Source: American journal of medical genetics [Am J Med Genet] 2000 Dec 11; Vol. 95 (4), pp. 320-4.

Publication Type: Case Reports; Journal Article; Review

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7708900 Publication Model: Print Cited Medium: Print ISSN: 0148-7299 (Print) Linking ISSN: 01487299 NLM ISO Abbreviation: Am J Med Genet Subsets: MEDLINE