Literature DB >> 29884796

Dissecting the Wolf-Hirschhorn syndrome phenotype: WHSC1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism.

Marcella Zollino1, Paolo Niccolo' Doronzio2.   

Abstract

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Year:  2018        PMID： 29884796     DOI： 10.1038/s10038-018-0476-1

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


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  8 in total

1.  First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation.

Authors:  A Rauch; S Schellmoser; C Kraus; H G Dörr; U Trautmann; M R Altherr; R A Pfeiffer; A Reis
Journal:  Am J Med Genet       Date:  2001-04-01

2.  A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region.

Authors:  T J Wright; D O Ricke; K Denison; S Abmayr; P D Cotter; K Hirschhorn; M Keinänen; D McDonald-McGinn; M Somer; N Spinner; T Yang-Feng; E Zackai; M R Altherr
Journal:  Hum Mol Genet       Date:  1997-02       Impact factor: 6.150

Review 3.  On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.

Authors:  Marcella Zollino; Marina Murdolo; Giuseppe Marangi; Vanna Pecile; Cinzia Galasso; Laura Mazzanti; Giovanni Neri
Journal:  Am J Med Genet C Semin Med Genet       Date:  2008-11-15       Impact factor: 3.908

Review 4.  Wolf-Hirschhorn syndrome: A review and update.

Authors:  Agatino Battaglia; John C Carey; Sarah T South
Journal:  Am J Med Genet C Semin Med Genet       Date:  2015-08-04       Impact factor: 3.908

5.  Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.

Authors:  Marcella Zollino; Rosetta Lecce; Rita Fischetto; Marina Murdolo; Francesca Faravelli; Angelo Selicorni; Cinzia Buttè; Luigi Memo; Giuseppe Capovilla; Giovanni Neri
Journal:  Am J Hum Genet       Date:  2003-01-30       Impact factor: 11.025

6.  Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder.

Authors:  Marcella Zollino; Daniela Orteschi; Mariken Ruiter; Rolph Pfundt; Katharina Steindl; Concetta Cafiero; Stefania Ricciardi; Ilaria Contaldo; Daniela Chieffo; Domiziana Ranalli; Celeste Acquafondata; Marina Murdolo; Giuseppe Marangi; Alessia Asaro; Domenica Battaglia
Journal:  Epilepsia       Date:  2014-04-16       Impact factor: 5.864

7.  Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome [del(4p)].

Authors:  M G Wilson; J W Towner; G S Coffin; A J Ebbin; E Siris; P Brager
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

8.  Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome.

Authors:  Karen S Ho; Sarah T South; Amanda Lortz; Charles H Hensel; Mallory R Sdano; Rena J Vanzo; Megan M Martin; Andreas Peiffer; Christophe G Lambert; Amy Calhoun; John C Carey; Agatino Battaglia
Journal:  J Med Genet       Date:  2016-01-08       Impact factor: 6.318
  8 in total
  5 in total

1.  Partial Monosomy 4p and Trisomy 12q due to a t(4;12)(p16.3;q24.31) Familial Translocation in Two Cousins.

Authors:  Tatiana Mozer Joaquim; Carlos H Paiva Grangeiro; Flávia Gaona de Oliveira Gennaro; Alexandra Galvão Gomes; Jeremy A Squire; Lucia R Martelli
Journal:  Mol Syndromol       Date:  2019-07-27

2.  Bi-allelic LETM1 variants perturb mitochondrial ion homeostasis leading to a clinical spectrum with predominant nervous system involvement.

Authors:  Rauan Kaiyrzhanov; Sami E M Mohammed; Reza Maroofian; Ralf A Husain; Alessia Catania; Alessandra Torraco; Ahmad Alahmad; Marina Dutra-Clarke; Sabine Grønborg; Annapurna Sudarsanam; Julie Vogt; Filippo Arrigoni; Julia Baptista; Shahzad Haider; René G Feichtinger; Paolo Bernardi; Alessandra Zulian; Mirjana Gusic; Stephanie Efthymiou; Renkui Bai; Farah Bibi; Alejandro Horga; Julian A Martinez-Agosto; Amanda Lam; Andreea Manole; Diego-Perez Rodriguez; Romina Durigon; Angela Pyle; Buthaina Albash; Carlo Dionisi-Vici; David Murphy; Diego Martinelli; Enrico Bugiardini; Katrina Allis; Costanza Lamperti; Siegfried Reipert; Lotte Risom; Lucia Laugwitz; Michela Di Nottia; Robert McFarland; Laura Vilarinho; Michael Hanna; Holger Prokisch; Johannes A Mayr; Enrico Silvio Bertini; Daniele Ghezzi; Elsebet Østergaard; Saskia B Wortmann; Rosalba Carrozzo; Tobias B Haack; Robert W Taylor; Antonella Spinazzola; Karin Nowikovsky; Henry Houlden
Journal:  Am J Hum Genet       Date:  2022-09-01       Impact factor: 11.043

3.  Distinct Epileptogenic Mechanisms Associated with Seizures in Wolf-Hirschhorn Syndrome.

Authors:  Thiago Corrêa; Maytza Mayndra; Cíntia B Santos-Rebouças
Journal:  Mol Neurobiol       Date:  2022-03-12       Impact factor: 5.590

4.  De novo loss-of-function variants in NSD2 (WHSC1) associate with a subset of Wolf-Hirschhorn syndrome.

Authors:  Elizabeth S Barrie; Maria P Alfaro; Ruthann B Pfau; Melanie J Goff; Kim L McBride; Kandamurugu Manickam; Erik J Zmuda
Journal:  Cold Spring Harb Mol Case Stud       Date:  2019-08-01

5.  The first familial NSD2 cases with a novel variant in a Chinese father and daughter with atypical WHS facial features and a 7.5-year follow-up of growth hormone therapy.

Authors:  Xuyun Hu; Di Wu; Yuchuan Li; Liya Wei; Xiaoqiao Li; Miao Qin; Hongdou Li; Mengting Li; Shaoke Chen; Chunxiu Gong; Yiping Shen
Journal:  BMC Med Genomics       Date:  2020-12-04       Impact factor: 3.063
  5 in total

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