Literature DB >> 7128636

A new genetic disorder: autosomal-dominant multiple benign ring-shaped skin creases.

J Kunze, H Riehm.   

Abstract

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Year:  1982        PMID： 7128636     DOI： 10.1007/bf00442501

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


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  11 in total

1.  IN SITU NEUROBLASTOMAS: A CONTRIBUTION TO THE NATURAL HISTORY OF NEURAL CREST TUMORS.

Authors:  J B BECKWITH; E V PERRIN
Journal:  Am J Pathol       Date:  1963-12       Impact factor: 4.307

2.  Congenital ring-constrictions.

Authors:  T J PATTERSON
Journal:  Br J Plast Surg       Date:  1961-04

3.  Association of congenital adrenal neuroblastoma with multiple anomalies including an unusual oropharyngeal cavity (imperforate buccopharyngeal membrane?).

Authors:  A O KOUYOUMDJIAN; J J McDONALD
Journal:  Cancer       Date:  1951-07       Impact factor: 6.860

4.  Etiologic factors in the amniotic band syndrome: a study of 24 patients.

Authors:  V Ossipoff; B D Hall
Journal:  Birth Defects Orig Artic Ser       Date:  1977

5.  Fetal limb deformities due to amniotic constrictions (a possible consequence of preceding amniocentesis).

Authors:  H Rehder
Journal:  Pathol Res Pract       Date:  1978-07       Impact factor: 3.250

6.  Congenital ring constrictions and intrauterine amputations.

Authors:  C J Baker; A J Rudolph
Journal:  Am J Dis Child       Date:  1971-05

7.  Dysmorphogenesis of joints, brain, and palate: a new dominantly inherited syndrome.

Authors:  J M Aase; D W Smith
Journal:  J Pediatr       Date:  1968-10       Impact factor: 4.406

8.  Constrictive bands in the human.

Authors:  S S Gellis
Journal:  Birth Defects Orig Artic Ser       Date:  1977

9.  Generalized folded skin with an underlying lipomatous nevus. "The Michelin Tire baby".

Authors:  C M Ross
Journal:  Arch Dermatol       Date:  1969-09

10.  The amniotic band disruption complex: timing of amniotic rupture and variable spectra of consequent defects.

Authors:  M C Higginbottom; K L Jones; B D Hall; D W Smith
Journal:  J Pediatr       Date:  1979-10       Impact factor: 4.406
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  6 in total

1.  Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.

Authors:  Mala Isrie; Martin Breuss; Guoling Tian; Andi Harley Hansen; Francesca Cristofoli; Jasmin Morandell; Zachari A Kupchinsky; Alejandro Sifrim; Celia Maria Rodriguez-Rodriguez; Elena Porta Dapena; Kurston Doonanco; Norma Leonard; Faten Tinsa; Stéphanie Moortgat; Hakan Ulucan; Erkan Koparir; Ender Karaca; Nicholas Katsanis; Valeria Marton; Joris Robert Vermeesch; Erica E Davis; Nicholas J Cowan; David Anthony Keays; Hilde Van Esch
Journal:  Am J Hum Genet       Date:  2015-12-03       Impact factor: 11.025

Review 2.  Zebrafish models of orofacial clefts.

Authors:  Kaylia M Duncan; Kusumika Mukherjee; Robert A Cornell; Eric C Liao
Journal:  Dev Dyn       Date:  2017-09-25       Impact factor: 3.780

3.  Rare Cause of West syndrome secondary to Tubulinopathy due to Congenital Symmetric Circumferential Skin Creases (CSCSC) Kunze Type due to a Novel Variant in MAPRE2 Gene.

Authors:  Vykuntaraju K Gowda; Varunvenkat M Srinivasan; Varsha Reddy; Maya Bhat
Journal:  Ann Indian Acad Neurol       Date:  2021-10-22       Impact factor: 1.714

4.  A Rare Case of Michelin Tire Baby Syndrome in a Newborn.

Authors:  Kamleshun Ramphul; Stephanie G Mejias; Yogeshwaree Ramphul-Sicharam
Journal:  Cureus       Date:  2018-02-24

Review 5.  Hereditary Hearing Impairment with Cutaneous Abnormalities.

Authors:  Tung-Lin Lee; Pei-Hsuan Lin; Pei-Lung Chen; Jin-Bon Hong; Chen-Chi Wu
Journal:  Genes (Basel)       Date:  2020-12-30       Impact factor: 4.096

6.  Diaphragmatic paralysis in a neonate with circumferential skin creases Kunze type.

Authors:  Gao Chun Fang; Ding Kaiwei; Zeng Lingkong; Tao Xuwei
Journal:  Mol Genet Genomic Med       Date:  2022-06-23       Impact factor: 2.473
  6 in total

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