Literature DB >> 25415058

Small bowel malrotation in distal 15q duplication: evidence for a rare association.

Brooke M McLaughlin1, Robert B Hufnagel, Howard M Saal.   

Abstract

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Year:  2015        PMID： 25415058      PMCID： PMC9100852          DOI： 10.1097/MCD.0000000000000063

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


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  13 in total

1.  Mild phenotype in two siblings with distal monosomy 12p13.31-->pter.

Authors:  I A Glass; A Trenholme; L Mildenhall; R J Bailey; P D Cotter
Journal:  Clin Genet       Date:  2000-05       Impact factor: 4.438

2.  A 4.5 Mb terminal deletion of chromosome 12p helps further define a psychosis-associated locus.

Authors:  Hilda Vargas; Gail Beldia; William Korosh; Vicki Sudhalter; Anwar Iqbal; Jose Arturo Sanchez-Lacay; Milen Velinov
Journal:  Eur J Med Genet       Date:  2012-06-02       Impact factor: 2.708

Review 3.  Two cousins with partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of the chromosome 12.

Authors:  Clotilde Lagier-Tourenne; E Ginglinger; Y Alembik; A De Saint Martin; M O Peter; P Dulucq; P Jonveaux; E Jeandidier
Journal:  Am J Med Genet A       Date:  2004-02-15       Impact factor: 2.802

4.  A girl with 15q overgrowth syndrome and dup(15)(q24q26.3) that included telomeric sequences.

Authors:  María de Los Angeles Gutiérrez-Franco; María de la Luz Madariaga-Campos; Ana I Vásquez-Velásquez; Esmeralda Matute; Roberto Guevara-Yáñez; Horacio Rivera
Journal:  Korean J Lab Med       Date:  2010-06

5.  Letter: Partial trisomy 15 as a result of an unbalanced 12/15 translocation in a patient with a cloverleaf skull anomaly.

Authors:  C Pedersen
Journal:  Clin Genet       Date:  1976-03       Impact factor: 4.438

6.  Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature.

Authors:  Laurence Faivre; Philippe Gosset; Valérie Cormier-Daire; Sylvie Odent; Jeanne Amiel; Irina Giurgea; Marie-Cécile Nassogne; Laurent Pasquier; Arnold Munnich; Serge Romana; Marguerite Prieur; Michel Vekemans; Marie-Christine De Blois; Catherine Turleau
Journal:  Eur J Hum Genet       Date:  2002-11       Impact factor: 4.246

7.  Megacystis, megacolon, and malrotation: a new syndromic association?

Authors:  A Pini Prato; V Rossi; M Fiore; S Avanzini; G Mattioli; F Sanfilippo; A Michelazzi; S Borghini; N Disma; G Montobbio; A Barabino; P Nozza; I Ceccherini; S Gimelli; V Jasonni
Journal:  Am J Med Genet A       Date:  2011-07-07       Impact factor: 2.802

8.  Dysplastic features, growth retardation, malrotation of the gut, and fatal ventricular septal defect in a 4-month-old girl with ring chromosome 15.

Authors:  J Otto; E Back; H O Fürste; M Abel; N Böhm; W Pringsheim
Journal:  Eur J Pediatr       Date:  1984-08       Impact factor: 3.183

9.  15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q.

Authors:  Katrina Tatton-Brown; Daniela T Pilz; Karen Helene Orstavik; Michael Patton; John C K Barber; Morag N Collinson; Vivienne K Maloney; Shuwen Huang; John A Crolla; Karen Marks; Eli Ormerod; Peter Thompson; Zafar Nawaz; Christa Lese-Martin; Susan Tomkins; Paula Waits; Nazneen Rahman; Meriel McEntagart
Journal:  Am J Med Genet A       Date:  2009-02       Impact factor: 2.802

Review 10.  Pallister-Killian syndrome: a report of 2 cases and review of its surgical aspects.

Authors:  Maciej Baglaj; Juliette King; Robert Carachi
Journal:  J Pediatr Surg       Date:  2008-06       Impact factor: 2.545
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  1 in total

1.  Prenatal diagnosis of a pure 15q distal trisomy derived from a maternal pericentric inversion: A case report.

Authors:  Florin Burada; Ioana Streata; Anda Ungureanu; Dan Ruican; Rodica Nagy; Simona Serban-Sosoi; Danai Stambouli; Luiza Dimos; Gabriela Popescu-Hobeanu; Ioana Mihai; Dominic Iliescu
Journal:  Exp Ther Med       Date:  2021-01-29       Impact factor: 2.447
  1 in total

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