213 related articles for article (PubMed ID: 11857617)
41. Intrafamily and Interfamilial Phenotype Variation and Immature Immunity in Patients With Netherton Syndrome and Finnish SPINK5 Founder Mutation.
Hannula-Jouppi K; Laasanen SL; Ilander M; Furio L; Tuomiranta M; Marttila R; Jeskanen L; Häyry V; Kanerva M; Kivirikko S; Tuomi ML; Heikkilä H; Mustjoki S; Hovnanian A; Ranki A
JAMA Dermatol; 2016 Apr; 152(4):435-42. PubMed ID: 26865388
[TBL] [Abstract][Full Text] [Related]
42. Prenatal diagnosis of progressive familial intrahepatic cholestasis type 2.
Chen ST; Chen HL; Su YN; Liu YJ; Ni YH; Hsu HY; Chu CS; Wang NY; Chang MH
J Gastroenterol Hepatol; 2008 Sep; 23(9):1390-3. PubMed ID: 18853996
[TBL] [Abstract][Full Text] [Related]
43. A heterozygous null mutation combined with the G1258A polymorphism of SPINK5 causes impaired LEKTI function and abnormal expression of skin barrier proteins.
Di WL; Hennekam RC; Callard RE; Harper JI
Br J Dermatol; 2009 Aug; 161(2):404-12. PubMed ID: 19438860
[TBL] [Abstract][Full Text] [Related]
44. A Novel SPINK5 Gene Mutation Associated with Netherton Syndrome in an Omani Patient.
Hamza N; Al Sukaiti N; Ahmed KAM; Romano R; Gokhale UA; Pan-Hammarström Q
Sultan Qaboos Univ Med J; 2021 Nov; 21(4):652-656. PubMed ID: 34888090
[TBL] [Abstract][Full Text] [Related]
45. Prenatal diagnosis of congenital myotonic dystrophy and counseling of the pregnant mother: case report and literature review.
Geifman-Holtzman O; Fay K
Am J Med Genet; 1998 Jul; 78(3):250-3. PubMed ID: 9677060
[TBL] [Abstract][Full Text] [Related]
46. Netherton syndrome in two Japanese siblings with a novel mutation in the SPINK5 gene: immunohistochemical studies of LEKTI and other epidermal molecules.
Shimomura Y; Sato N; Kariya N; Takatsuka S; Ito M
Br J Dermatol; 2005 Nov; 153(5):1026-30. PubMed ID: 16225619
[TBL] [Abstract][Full Text] [Related]
47. Establishment of a mouse model of Netherton syndrome based on CRISPR/Cas9 technology.
Guo JZ; Su J; Dai H; Wang XY; Wu WB; Chen T; Zhang J; Wang WH
Eur J Dermatol; 2022 Jul; 32(4):459-463. PubMed ID: 36301754
[TBL] [Abstract][Full Text] [Related]
48. Netherton syndrome: mutation analysis of two Taiwanese families.
Lin SP; Huang SY; Tu ME; Wu YH; Lin CY; Lin HY; Lee-Chen GJ
Arch Dermatol Res; 2007 Jun; 299(3):145-50. PubMed ID: 17415575
[TBL] [Abstract][Full Text] [Related]
49. Successful prenatal molecular diagnosis of carbamyl-phosphate synthetase I deficiency in two at-risk pregnancies.
Funghini S; Morrone A; Pasquini E; Zammarchi E; Donati MA
J Inherit Metab Dis; 2005; 28(5):801-2. PubMed ID: 16151916
[TBL] [Abstract][Full Text] [Related]
50. Lethal Netherton syndrome due to homozygous p.Arg371X mutation in SPINK5.
Diociaiuti A; Castiglia D; Fortugno P; Bartuli A; Pascucci M; Zambruno G; El Hachem M
Pediatr Dermatol; 2013; 30(4):e65-7. PubMed ID: 23331056
[TBL] [Abstract][Full Text] [Related]
51. Whole-exome sequencing diagnosis of two autosomal recessive disorders in one family.
Takeichi T; Nanda A; Aristodemou S; McMillan JR; Lee J; Akiyama M; Al-Ajmi H; Simpson MA; McGrath JA
Br J Dermatol; 2015; 172(5):1407-11. PubMed ID: 25308318
[TBL] [Abstract][Full Text] [Related]
52. Prenatal diagnosis in a Chinese family with type Ia glycogen storage disease by PCR-based genetic analysis.
Lee WJ; Yang CH; Ho ES; Shih A; Lin LY; Lin WH
Prenat Diagn; 1996 Nov; 16(11):1027-31. PubMed ID: 8953636
[TBL] [Abstract][Full Text] [Related]
53. [Rapid genetic prenatal diagnosis for achondroplasia].
Zhu HY; Yang Y; Li J; Ru T; Hu YL
Zhonghua Fu Chan Ke Za Zhi; 2008 Nov; 43(11):810-3. PubMed ID: 19087561
[TBL] [Abstract][Full Text] [Related]
54. Update on the prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
Motaghedi R; Betensky BP; Slowinska B; Cerame B; Cabrer M; New MI; Wilson RC
J Pediatr Endocrinol Metab; 2005 Feb; 18(2):133-42. PubMed ID: 15751602
[TBL] [Abstract][Full Text] [Related]
55. A novel SPINK5 mutation and successful subcutaneous immunoglobulin replacement therapy in a child with Netherton syndrome.
Zelieskova M; Banovcin P; Kozar M; Kozarova A; Nudzajova Z; Jesenak M
Pediatr Dermatol; 2020 Nov; 37(6):1202-1204. PubMed ID: 32767583
[TBL] [Abstract][Full Text] [Related]
56. Gene-Targeted Next Generation Sequencing Identifies PNPLA1 Mutations in Patients with a Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis: The Impact of Consanguinity.
Vahidnezhad H; Youssefian L; Saeidian AH; Zeinali S; Mansouri P; Sotoudeh S; Barzegar M; Mohammadi-Asl J; Karamzadeh R; Abiri M; McCormick K; Fortina P; Uitto J
J Invest Dermatol; 2017 Mar; 137(3):678-685. PubMed ID: 27884779
[TBL] [Abstract][Full Text] [Related]
57. Severe lethal phenotype of a Japanese case of Netherton syndrome with homozygous founder mutations of SPINK5 c.375_376delAT.
Itoh K; Kako T; Suzuki N; Sakurai N; Sugiyama K; Yamanishi K
J Dermatol; 2015 Dec; 42(12):1212-4. PubMed ID: 26365906
[No Abstract] [Full Text] [Related]
58. DNA-based prenatal diagnosis of generalized recessive dystrophic epidermolysis bullosa in six pregnancies at risk for recurrence.
Hovnanian A; Hilal L; Blanchet-Bardon C; Bodemer C; de Prost Y; Stark CA; Christiano AM; Dommergues M; Terwilliger JD; Izquierdo L
J Invest Dermatol; 1995 Apr; 104(4):456-61. PubMed ID: 7706758
[TBL] [Abstract][Full Text] [Related]
59. Prenatal diagnosis of the carbohydrate-deficient glycoprotein syndrome type 1A (CDG1A) by a combination of enzymology and genetic linkage analysis after amniocentesis or chorionic villus sampling.
Charlwood J; Clayton P; Keir G; Mian N; Young E; Winchester B
Prenat Diagn; 1998 Jul; 18(7):693-9. PubMed ID: 9706650
[TBL] [Abstract][Full Text] [Related]
60. Prenatal diagnosis and fetal pathology in a Turkish family harboring a novel nonsense mutation in the lysosomal alpha-N-acetyl-neuraminidase (sialidase) gene.
Sergi C; Penzel R; Uhl J; Zoubaa S; Dietrich H; Decker N; Rieger P; Kopitz J; Otto HF; Kiessling M; Cantz M
Hum Genet; 2001 Oct; 109(4):421-8. PubMed ID: 11702224
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
