Literature DB >> 4339984

Popliteal pterygium syndrome. Evidence for a severe autosomal recessive form.

C S Bartsocas, C V Papas.   

Abstract

Mesh：

Year:  1972        PMID： 4339984      PMCID： PMC1469049          DOI： 10.1136/jmg.9.2.222

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  11 in total

1.  [An observed case: a curious hereditary syndrome cheilopalatoschisis with fistulas of the lower lip so associated with syndactyly, a peculiar onychoplasia, unilateral popliteal pterygium and pes varus equinus].

Authors:  D KLEIN
Journal:  J Genet Hum       Date:  1962-03

2.  Congenital popliteal webbing in siblings; a report of two cases.

Authors:  R CHAMPION; J C CREGAN
Journal:  J Bone Joint Surg Br       Date:  1959-05

3.  [Webbing of the thighs and legs containing the sciatic nerve. The popliteal webbing syndrome and multiple malformations. (Cleft palate, fistulas of the lower lip, syndactylia of the toes)].

Authors:  M FEVRE; A LANGUEPIN
Journal:  Presse Med       Date:  1962-03-17       Impact factor: 1.228

4.  [Combination of labio-mandibulo-palatal fissures with deformities of extremities].

Authors:  H SCHONENBERG
Journal:  Z Kinderheilkd       Date:  1955

5.  Ectodermal dysplasia.

Authors:  D ROSSELLI; R GULIENETTI
Journal:  Br J Plast Surg       Date:  1961-10

6.  Webbing of Lower Limbs, associated with Congenital Bilateral Contractions of Flexor Muscles of Elbow and Wrist.

Authors:  L M Edwards
Journal:  Proc R Soc Med       Date:  1938-07

7.  [The popliteal pterygium syndrome. A dominant autosomal malformation syndrome].

Authors:  R A Pfeiffer; W Tünte; M Reinken
Journal:  Z Kinderheilkd       Date:  1970

8.  Popliteal pterygium syndrome . A syndrome comprising cleft lip-palate, popliteal and intercrural pterygia, digital and genital anomalies.

Authors:  R J Gorlin; H O Sedano; J Cervenka
Journal:  Pediatrics       Date:  1968-02       Impact factor: 7.124

9.  [Popliteal pterygium syndrome].

Authors:  H P Kind
Journal:  Helv Paediatr Acta       Date:  1970-11

10.  Heritable dysmorphic syndrome with normal intelligence.

Authors:  F Hecht; J M Jarvinen
Journal:  J Pediatr       Date:  1967-06       Impact factor: 4.406
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  13 in total

Review 1.  Sirenomelia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research, and literature review.

Authors:  Iêda M Orioli; Emmanuelle Amar; Jazmin Arteaga-Vazquez; Marian K Bakker; Sebastiano Bianca; Lorenzo D Botto; Maurizio Clementi; Adolfo Correa; Melinda Csaky-Szunyogh; Emanuele Leoncini; Zhu Li; Jorge S López-Camelo; R Brian Lowry; Lisa Marengo; María-Luisa Martínez-Frías; Pierpaolo Mastroiacovo; Margery Morgan; Anna Pierini; Annukka Ritvanen; Gioacchino Scarano; Elena Szabova; Eduardo E Castilla
Journal:  Am J Med Genet C Semin Med Genet       Date:  2011-10-14       Impact factor: 3.908

2.  A Family from Turkey with Bartsocas-Papas Syndrome.

Authors:  Rukiye Ada Bender; Esra Cinar Tanriverdi; Aykan Yucel; Mustafa Genco Erdem
Journal:  Eurasian J Med       Date:  2017-02

3.  Popliteal pterygium syndrome.

Authors:  U G Froster-Iskenius
Journal:  J Med Genet       Date:  1990-05       Impact factor: 6.318

4.  Multiple pterygium syndrome type Escobar in two brothers. Follow-up data from childhood to adulthood.

Authors:  J P Fryns; P Volcke; H van den Berghe
Journal:  Eur J Pediatr       Date:  1988-06       Impact factor: 3.183

5.  Popliteal pterygium syndrome: a phenotypic and genetic analysis.

Authors:  V Escobar; D Weaver
Journal:  J Med Genet       Date:  1978-02       Impact factor: 6.318

6.  A novel RIPK4-IRF6 connection is required to prevent epithelial fusions characteristic for popliteal pterygium syndromes.

Authors:  P De Groote; H T Tran; M Fransen; G Tanghe; C Urwyler; B De Craene; K Leurs; B Gilbert; G Van Imschoot; R De Rycke; C J Guérin; P Holland; G Berx; P Vandenabeele; S Lippens; K Vleminckx; W Declercq
Journal:  Cell Death Differ       Date:  2014-11-28       Impact factor: 15.828

Review 7.  IKK-related genetic diseases: probing NF-κB functions in humans and other matters.

Authors:  Anna Senegas; Jérémie Gautheron; Alice Gentil Dit Maurin; Gilles Courtois
Journal:  Cell Mol Life Sci       Date:  2014-11-29       Impact factor: 9.261

8.  Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.

Authors:  Ersan Kalay; Orhan Sezgin; Vasant Chellappa; Mehmet Mutlu; Heba Morsy; Hulya Kayserili; Elmar Kreiger; Aysegul Cansu; Bayram Toraman; Ebtesam Mohammed Abdalla; Yakup Aslan; Shiv Pillai; Nurten A Akarsu
Journal:  Am J Hum Genet       Date:  2011-12-22       Impact factor: 11.025

9.  Treatment of popliteal pterygium using an Ilizarov external fixator.

Authors:  Hyoung-Min Kim; Il-Jung Park; Changhoon Jeong
Journal:  Clin Orthop Surg       Date:  2009-11-25

10.  Integration of IRF6 and Jagged2 signalling is essential for controlling palatal adhesion and fusion competence.

Authors:  Rebecca J Richardson; Jill Dixon; Rulang Jiang; Michael J Dixon
Journal:  Hum Mol Genet       Date:  2009-05-13       Impact factor: 6.150
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