Detalhe da pesquisa
1.
Cancer spectrum and frequency among children with Noonan, Costello, and cardio-facio-cutaneous syndromes.
Br J Cancer
; 112(8): 1392-7, 2015 Apr 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-25742478
2.
Alitretinoin in punctate palmoplantar keratoderma.
Br J Dermatol
; 180(4): 931-932, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30339730
3.
[Middle ear salivary gland choristoma related to branchio-oto-renal syndrome diagnosed by array-CGH]. / Speicheldrüsenchoristom im Mittelohr bei mittels Array-CGH diagnostiziertem branchiootorenalem Syndrom.
HNO
; 62(5): 374-7, 2014 May.
Artigo
em Alemão
| MEDLINE | ID: mdl-23868653
4.
Phenotypic spectrum of epidermolysis bullosa associated with α6ß4 integrin mutations.
Br J Dermatol
; 169(1): 115-24, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23496044
5.
Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome.
Nat Genet
; 18(1): 81-3, 1998 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-9425907
6.
CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin.
Clin Genet
; 81(3): 234-9, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21554267
7.
Lethal junctional epidermolysis bullosa with pyloric atresia due to compound heterozygosity for two novel mutations in the integrin ß4 gene.
Klin Padiatr
; 224(1): 8-11, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21969027
8.
Late-onset inversa recessive dystrophic epidermolysis bullosa caused by glycine substitutions in collagen type VII.
Br J Dermatol
; 164(5): 1104-6, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21275939
9.
Unexpected manifestation of naevoid basal cell carcinoma (Gorlin) syndrome with a novel mutation in the PTCH1 gene in a female patient with long-lasting pemphigus vulgaris.
J Eur Acad Dermatol Venereol
; 30(3): 493-4, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25600101
10.
Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review.
Am J Med Genet A
; 152A(6): 1575-9, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20503338
11.
Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria.
Br J Dermatol
; 163(4): 866-9, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20618321
12.
Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.
Br J Dermatol
; 162(6): 1365-9, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20199538
13.
Mild clinical phenotype of Kindler syndrome associated with late diagnosis and skin cancer.
Dermatology
; 221(4): 309-12, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20938162
14.
[Glycogenosis type IV (Andersen disease). Clinical data, pathology, and genetics in a fatal perinatal case]. / Glykogenose Typ IV (Andersen). Klinik, Pathologie und Genetik eines letalen perinatalen Falles.
Pathologe
; 31(4): 293-6, 2010 Jul.
Artigo
em Alemão
| MEDLINE | ID: mdl-20532556
15.
Severe phenotype in a girl with partial tetrasomy 7, karyotype 46,XX,trp(7)(q35q36).
Cytogenet Genome Res
; 125(3): 248-52, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19738385
16.
Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort.
Br J Dermatol
; 161(5): 1089-97, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19681861
17.
Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia.
J Med Genet
; 45(11): 731-7, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18611983
18.
[Hereditary Alzheimer's disease with amyloid angiopathy caused by amyloid precursor protein locus]. / Familiäre Alzheimer-Variante mit Amyloidangiopathie als Ausdruck einer APP-Gen-Duplikation.
Nervenarzt
; 80(1): 62-3, 65-7, 2009 Jan.
Artigo
em Alemão
| MEDLINE | ID: mdl-18781290
19.
Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations.
Br J Dermatol
; 159(2): 464-9, 2008 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-18565177
20.
C-terminally truncated kindlin-1 leads to abnormal adhesion and migration of keratinocytes.
Br J Dermatol
; 159(5): 1192-6, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18652585