Literature DB >> 20503342

Deletions of Xp provide evidence for the role of holocytochrome C-type synthase (HCCS) in congenital diaphragmatic hernia.

Kanwal Qidwai1, David M Pearson, Gayle Simpson Patel, Barbara R Pober, Ladonna L Immken, Sau Wai Cheung, Daryl A Scott.   

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Year:  2010        PMID： 20503342      PMCID： PMC2909827          DOI： 10.1002/ajmg.a.33410

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  17 in total

1.  Linear skin defects and congenital microphthalmia: a new syndrome at Xp22.2.

Authors:  J Allanson; S Richter
Journal:  J Med Genet       Date:  1991-02       Impact factor: 6.318

2.  Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism.

Authors:  M J Nowaczyk; J A Ramsay; P Mohide; D J Tomkins
Journal:  Am J Med Genet       Date:  1998-05-26

3.  Infants with Bochdalek diaphragmatic hernia: sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program.

Authors:  Barbara R Pober; Angela Lin; Meaghan Russell; Kate G Ackerman; Sharmila Chakravorty; Bernarda Strauss; Marie Noel Westgate; Jay Wilson; Patricia K Donahoe; Lewis B Holmes
Journal:  Am J Med Genet A       Date:  2005-10-01       Impact factor: 2.802

4.  Terminal deletion of Xp in a dysmorphic anencephalic fetus.

Authors:  A Plaja; T Vendrell; E Sarret; N Torán; C Mediano
Journal:  Prenat Diagn       Date:  1994-05       Impact factor: 3.050

5.  Compensatory growth of healthy cardiac cells in the presence of diseased cells restores tissue homeostasis during heart development.

Authors:  Jörg-Detlef Drenckhahn; Quenten P Schwarz; Stephen Gray; Adrienne Laskowski; Helen Kiriazis; Ziqiu Ming; Richard P Harvey; Xiao-Jun Du; David R Thorburn; Timothy C Cox
Journal:  Dev Cell       Date:  2008-10       Impact factor: 12.270

6.  Loss of holocytochrome c-type synthetase causes the male lethality of X-linked dominant microphthalmia with linear skin defects (MLS) syndrome.

Authors:  Siddharth K Prakash; Trena A Cormier; Alanna E McCall; Jesus J Garcia; Rebecca Sierra; Bisong Haupt; Huda Y Zoghbi; Ignatia B Van Den Veyver
Journal:  Hum Mol Genet       Date:  2002-12-01       Impact factor: 6.150

7.  Prenatal diagnosis of Opitz (BBB) syndrome in the second trimester by ultrasound detection of hypospadias and hypertelorism.

Authors:  C Hogdall; J Siegel-Bartelt; A Toi; S Ritchie
Journal:  Prenat Diagn       Date:  1989-11       Impact factor: 3.050

8.  Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases.

Authors:  Manuela Morleo; Tiziano Pramparo; Lucia Perone; Giuliana Gregato; Cedric Le Caignec; Robert F Mueller; Tsutomu Ogata; Annick Raas-Rothschild; Marie Christine de Blois; Louise C Wilson; Gerald Zaidman; Orsetta Zuffardi; Andrea Ballabio; Brunella Franco
Journal:  Am J Med Genet A       Date:  2005-08-30       Impact factor: 2.802

9.  A DNA microarray survey of gene expression in normal human tissues.

Authors:  Radha Shyamsundar; Young H Kim; John P Higgins; Kelli Montgomery; Michelle Jorden; Anand Sethuraman; Matt van de Rijn; David Botstein; Patrick O Brown; Jonathan R Pollack
Journal:  Genome Biol       Date:  2005-02-14       Impact factor: 13.583

10.  Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22.

Authors:  N A Quaderi; S Schweiger; K Gaudenz; B Franco; E I Rugarli; W Berger; G J Feldman; M Volta; G Andolfi; S Gilgenkrantz; R W Marion; R C Hennekam; J M Opitz; M Muenke; H H Ropers; A Ballabio
Journal:  Nat Genet       Date:  1997-11       Impact factor: 38.330
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  6 in total

1.  De novo Xp terminal deletion in a triple X female with recurrent spontaneous abortions: a case report.

Authors:  Tahir M Malla; Arshad A Pandith; Fayaz A Dar; Mahrukh H Zargar; Zafar A Shah
Journal:  J Genet       Date:  2014-12       Impact factor: 1.166

2.  Congenital diaphragmatic hernia as a part of Nance-Horan syndrome?

Authors:  Molka Kammoun; Paul Brady; Luc De Catte; Jan Deprest; Koenraad Devriendt; Joris Robert Vermeesch
Journal:  Eur J Hum Genet       Date:  2018-01-22       Impact factor: 4.246

Review 3.  Underlying genetic etiologies of congenital diaphragmatic hernia.

Authors:  Daryl A Scott; Yoel Gofin; Aliska M Berry; April D Adams
Journal:  Prenat Diagn       Date:  2022-01-22       Impact factor: 3.050

4.  Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome.

Authors:  Sarah Vergult; Bart Leroy; Ilse Claerhout; Björn Menten
Journal:  Mol Vis       Date:  2013-02-06       Impact factor: 2.367

5.  Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.

Authors:  Vanessa A van Rahden; Isabella Rau; Sigrid Fuchs; Friederike K Kosyna; Hiram Larangeira de Almeida; Helen Fryssira; Bertrand Isidor; Anna Jauch; Madeleine Joubert; Augusta M A Lachmeijer; Christiane Zweier; Ute Moog; Kerstin Kutsche
Journal:  Orphanet J Rare Dis       Date:  2014-04-15       Impact factor: 4.123

6.  A Novel 4-Gene Score to Predict Survival, Distant Metastasis and Response to Neoadjuvant Therapy in Breast Cancer.

Authors:  Masanori Oshi; Eriko Katsuta; Li Yan; John M L Ebos; Omar M Rashid; Ryusei Matsuyama; Itaru Endo; Kazuaki Takabe
Journal:  Cancers (Basel)       Date:  2020-05-02       Impact factor: 6.639
  6 in total

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