Literature DB >> 21573681

Prenatal diagnosis of Comel-Netherton syndrome with PGD, case report and review article.

Banu Bingol1, Seval Tasdemir, Ziya Gunenc, Faruk Abike, Semra Esenkaya, Safak Tavukcuoglu, Hakan Berkil.   

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Year:  2011        PMID： 21573681      PMCID： PMC3162052          DOI： 10.1007/s10815-011-9568-y

Source DB:  PubMed          Journal:  J Assist Reprod Genet        ISSN： 1058-0468            Impact factor:   3.412


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  32 in total

1.  LEKTI, a novel 15-domain type of human serine proteinase inhibitor.

Authors:  H J Mägert; L Ständker; P Kreutzmann; H D Zucht; M Reinecke; C P Sommerhoff; H Fritz; W G Forssmann
Journal:  J Biol Chem       Date:  1999-07-30       Impact factor: 5.157

2.  Localization of the Netherton syndrome gene to chromosome 5q32, by linkage analysis and homozygosity mapping.

Authors:  S Chavanas; C Garner; C Bodemer; M Ali; D H Teillac; J Wilkinson; J L Bonafé; M Paradisi; D P Kelsell; S i Ansai; Y Mitsuhashi; M Larrègue; I M Leigh; J I Harper; A Taïeb; Y d Prost; L R Cardon; A Hovnanian
Journal:  Am J Hum Genet       Date:  2000-03       Impact factor: 11.025

3.  [Not Available].

Authors:  M COMEL
Journal:  Dermatologica       Date:  1949

4.  Preimplantation genetic diagnosis principles and ethics.

Authors:  S J Fasouliotis; J G Schenker
Journal:  Hum Reprod       Date:  1998-08       Impact factor: 6.918

Review 5.  An update of hair shaft disorders.

Authors:  R P Dawber
Journal:  Dermatol Clin       Date:  1996-10       Impact factor: 3.478

6.  Netherton's syndrome.

Authors:  D L Smith; J G Smith; S W Wong; R D deShazo
Journal:  Br J Dermatol       Date:  1995-07       Impact factor: 9.302

7.  The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.

Authors:  E Sprecher; S Chavanas; J J DiGiovanna; S Amin; K Nielsen; J S Prendiville; R Silverman; N B Esterly; M K Spraker; E Guelig; M L de Luna; M L Williams; B Buehler; E C Siegfried; L Van Maldergem; E Pfendner; S J Bale; J Uitto; A Hovnanian; G Richard
Journal:  J Invest Dermatol       Date:  2001-08       Impact factor: 8.551

Review 8.  Preimplantation diagnosis of genetic diseases.

Authors:  S K Adiga; G Kalthur; P Kumar; K M Girisha
Journal:  J Postgrad Med       Date:  2010 Oct-Dec       Impact factor: 1.476

9.  Prenatal diagnosis of a lethal form of Netherton syndrome by SPINK5 mutation analysis.

Authors:  E Bitoun; C Bodemer; J Amiel; Y de Prost; C Stoll; P Calvas; A Hovnanian
Journal:  Prenat Diagn       Date:  2002-02       Impact factor: 3.050

10.  LEKTI proteolytic processing in human primary keratinocytes, tissue distribution and defective expression in Netherton syndrome.

Authors:  Emmanuelle Bitoun; Alessia Micheloni; Laurence Lamant; Chrystelle Bonnart; Alessandro Tartaglia-Polcini; Christian Cobbold; Talal Al Saati; Feliciana Mariotti; Juliette Mazereeuw-Hautier; Franck Boralevi; Daniel Hohl; John Harper; Christine Bodemer; Marina D'Alessio; Alain Hovnanian
Journal:  Hum Mol Genet       Date:  2003-07-29       Impact factor: 6.150
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  3 in total

Review 1.  Netherton Syndrome: A Genotype-Phenotype Review.

Authors:  Constantina A Sarri; Angeliki Roussaki-Schulze; Yiannis Vasilopoulos; Efterpi Zafiriou; Aikaterini Patsatsi; Costas Stamatis; Polyxeni Gidarokosta; Dimitrios Sotiriadis; Theologia Sarafidou; Zissis Mamuris
Journal:  Mol Diagn Ther       Date:  2017-04       Impact factor: 4.074

2.  Adult-onset acral peeling skin syndrome in a non-identical twin: a case report in South Africa.

Authors:  Reshmi Mathew; Olufemi B Omole; Jonathan Rigby; Wayne Grayson
Journal:  Am J Case Rep       Date:  2014-12-31

3.  A Novel Tumor Suppressor SPINK5 Serves as an Independent Prognostic Predictor for Patients with Head and Neck Squamous Cell Carcinoma.

Authors:  Zhongjing Lv; Kun Wu; Xing Qin; Jian Yuan; Ming Yan; Jianjun Zhang; Lizhen Wang; Tong Ji; Wei Cao; Wantao Chen
Journal:  Cancer Manag Res       Date:  2020-06-23       Impact factor: 3.989
  3 in total

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