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Caroline Rooryck

Research Profile

Physiology

Disorders

Living Beings

Infants

Procedures

Anatomy

Oculocutaneous Albinism

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Oligonucleotide Array Sequence Analysis

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Publications

TOP 3
Phi Yen Vu; Azza Abd El Moneim; Jérôme Toutain; Cong Toai Tran; Benoît Arveiler; Pascal Barat; Françoise Bonnet; Sylvain Briault; David Cappellen; Zong Qi Dai; Hussein Daoud; Marie-Ange Delrue; Didier Lacombe; Orianne Montaubin; Christophe Philippe; Caroline Rooryck; Robert Saura; Laurence Taine
A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome.
MAROUFOU JULES ALAO; Benoît Arveiler; Ch Hans; D Lacombe; A Lalèyè; F Lalya; F Morice-Picard; M Abramovicz; Caroline Rooryck
Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female.
Gaelle Thierry; Ann-Charlotte Thuresson; Bassim Tou; Annick Toutain; Bregje W M van Bon; Corinne Metay; Laurent Pasquier; Agathe Paubel; Olivier Pichon; Françoise Popelard; Marie-Pierre Quéré; Caroline Rooryck; Cecilia Soussi-Zander; Benoît Arveiler; Claire Bénéteau; Mylène Béri; Céline Bonnet; Dorothée Cailley; Albert David; Bert B A de Vries; Marie-Ange Delrue; Laetitia Duboscq-Bidot; Christèle Dubourg; Anne Dusser; Elisabeth Flori; Bertrand Isidor; Sylvie Jaillard; Philippe Jonveaux; Didier Lacombe; Cédric Le Caignec
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.

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All Publications

2012: Phi Yen Vu; Azza Abd El Moneim; Jérôme Toutain; Cong Toai Tran; Benoît Arveiler; Pascal Barat; Françoise Bonnet; Sylvain Briault; David Cappellen; Zong Qi Dai; Hussein Daoud; Marie-Ange Delrue; Didier Lacombe; Orianne Montaubin; Christophe Philippe; Caroline Rooryck; Robert Saura; Laurence Taine
A homozygous balanced reciprocal translocation suggests LINC00237 as a candidate gene for MOMO (macrosomia, obesity, macrocephaly, and ocular abnormalities) syndrome.
American journal of medical genetics. Part A 2012;158A(11):2849-56.
2012: MAROUFOU JULES ALAO; Benoît Arveiler; Ch Hans; D Lacombe; A Lalèyè; F Lalya; F Morice-Picard; M Abramovicz; Caroline Rooryck
Blepharophimosis, ptosis, epicanthus inversus syndrome with translocation and deletion at chromosome 3q23 in a black African female.
European journal of medical genetics 2012;55(11):630-4.
2012: Gaelle Thierry; Ann-Charlotte Thuresson; Bassim Tou; Annick Toutain; Bregje W M van Bon; Corinne Metay; Laurent Pasquier; Agathe Paubel; Olivier Pichon; Françoise Popelard; Marie-Pierre Quéré; Caroline Rooryck; Cecilia Soussi-Zander; Benoît Arveiler; Claire Bénéteau; Mylène Béri; Céline Bonnet; Dorothée Cailley; Albert David; Bert B A de Vries; Marie-Ange Delrue; Laetitia Duboscq-Bidot; Christèle Dubourg; Anne Dusser; Elisabeth Flori; Bertrand Isidor; Sylvie Jaillard; Philippe Jonveaux; Didier Lacombe; Cédric Le Caignec
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures.
American journal of medical genetics. Part A 2012;158A(7):1633-40.
2012: Patricia Fergelot; Benoît Arveiler; Odile Boute; Isabelle Coupry; Albert David; Julie Deforges; Anne Dieux-Coeslier; Didier Lacombe; Cécile Marchal; Elise Maurat; Caroline Rooryck; Guilhem Solé; Jean-Benoit Thambo; Cyril Goizet
Atypical male and female presentations of FLNA-related periventricular nodular heterotopia.
European journal of medical genetics 2012;55(5):313-8.
2012: Sébastien Moutton; Caroline Rooryck; Emmanuelle Taupiac; Jérôme Toutain; Frédéric Villega; Benoît Arveiler; Julie Bouron; Dorothée Cailley; Didier Lacombe; Cyril Goizet
Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: a recognizable microdeletion phenotype?
European journal of medical genetics 2012;55(2):151-5.
2012: Aurore Brun; Dorothée Cailley; Cyril Goizet; Didier Lacombe; Benoît Arveiler; Julie Bouron; Jérôme Toutain; Caroline Rooryck
1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype.
European journal of medical genetics 2012;55(2):135-9.
2011: Paquita Nurden; Anne-Cécile Pons; Philippe Rameau; Caroline Rooryck; Guilhem Solé; William Vainchenker; Ibtissam Youlyouz-Marfak; Alexandre Kauskot; Didier Lacombe; Jean-Marie Daniel Lamazière; Alan Nurden; Frédéric Adam; Benoît Arveiler; Eliane Berrou; Marijke Bryckaert; Dorothée Cailley; Isabelle Coupry; Najet Debili; Patricia Fergelot; Cyril Goizet
Thrombocytopenia resulting from mutations in filamin A can be expressed as an isolated syndrome.
Blood 2011;118(22):5928-37.
2011: Stanislas Faguer; Marie-Béatrice Nogier; Cathie Prouheze; Caroline Rooryck; Benoît Arveiler; Flavio Bandin; Patrick Calvas; Nicolas Chassaing; Dominique Chauveau; Stéphane Decramer
A 17q12 chromosomal duplication associated with renal disease and esophageal atresia.
European journal of medical genetics 2011;54(4):e437-40.
2011: Stanislas Faguer; Annachiara De Sandre-Giovannoli; Michèle Hemery; Nicolas Lévy; Laurence Lamant; Benoît Arveiler; Caroline Rooryck; Cathie Prouheze; Adeline Vigouroux; Dominique Chauveau; Patrick Calvas; Nicolas Chassaing
A 10 Mb duplication in chromosome band 5q31.3-5q33.1 associated with late-onset lipodystrophy, ichthyosis, epilepsy and glomerulonephritis.
European journal of medical genetics 2011;54(3):310-3.
2011: Caroline Rooryck; Anna Diaz Font; Daniel Peter Sayer Osborn; Elyes Chabchoub; Victor Hernandez-Hernandez; Hanan Shamseldin; Joanna Kenny; Aoife Waters; Dagan Jenkins; Ali Al Kaissi; Gabriela F Leal; Bruno Dallapiccola; Franco Carnevale; Maria Bitner-Glindzicz; Melissa Lees; Raoul Hennekam; Philip Stanier; Alan J Burns; Hilde Peeters; Fowzan S Alkuraya; Philip L Beales
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome.
Nature genetics 2011;43(3):197-203.
2011: Caroline Rooryck; Fanny Morice-Picard; Eulalie Lasseaux; Dorothée Cailley; Hélène Dollfus; Sabine Defoort-Dhellemme; Bénédicte Duban-Bedu; Thomy J L de Ravel; Alain Taieb; Didier Lacombe; Benoît Arveiler
High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients.
Human genetics 2011;129(2):199-208.
2010: Didier Lacombe; Marie-Ange Delrue; Caroline Rooryck; Fanny Morice-Picard; Benoît Arveiler; Brigitte Maugey-Laulom; Stefan Mundlos; Annick Toutain; Jean-François Chateil
Brachydactyly type A1 with short humerus and associated skeletal features.
American journal of medical genetics. Part A 2010;152A(12):3016-21.
2010: Caroline Rooryck; Noui Souakri; Dorothée Cailley; Julie Bouron; Cyril Goizet; Marie-Ange Delrue; Sandrine Marlin; Feclad Didier Lacombe; Benoît Arveiler
Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum.
American journal of medical genetics. Part A 2010;152A(8):1984-9.
2010: Delphine Simon; Benoit Laloo; Malika Barillot; Thomas Barnetche; Camille Blanchard; Caroline Rooryck; Michèle Marche; Ingrid Burgelin; Isabelle Coupry; Nicolas Chassaing; Brigitte Gilbert-Dussardier; Didier Lacombe; Christophe Grosset; Benoît Arveiler
A mutation in the 3'-UTR of the HDAC6 gene abolishing the post-transcriptional regulation mediated by hsa-miR-433 is linked to a new form of dominant X-linked chondrodysplasia.
Human molecular genetics 2010;19(10):2015-27.
2010: Caroline Rooryck; Yen VuPhi; Noui Souakri; Ingrid Burgelin; Robert Saura; Didier Lacombe; Benoît Arveiler; Laurence Taine
Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrum.
European journal of medical genetics 2010;53(2):104-7.
2009: G Solé; Isabelle Coupry; Caroline Rooryck; E Guérineau; F Martins; S Devés; C Hubert; N Souakri; O Boute; C Marchal; L Faivre; E Landré; S Debruxelles; A Dieux-Coeslier; C Boulay; S Chassagnon; V Michel; M-C Routon; Annick Toutain; N Philip; Didier Lacombe; L Villard; B Arveiler; C Goizet
Bilateral periventricular nodular heterotopia in France: frequency of mutations in FLNA, phenotypic heterogeneity and spectrum of mutations.
Journal of neurology, neurosurgery, and psychiatry 2009;80(12):1394-8.
2009: Caroline Rooryck; Marianne Stef; Ingrid Burgelin; Delphine Simon; Noui Souakri; Jean-Benoît Thambo; Jean-François Chateil; Didier Lacombe; Benoît Arveiler
2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene.
European journal of medical genetics 2009;52(6):446-9.
2009: Fanny Morice-Picard; Sandrine Marlin; Caroline Rooryck; Mickael Fayon; Jeao-Benoît Thambo; Jean-Louis Demarquez; Brigitte Fauroux; Francoise Denoyelle; Didier Lacombe
Hallerman-Streiff-like syndrome presenting with laterality and cardiac defects.
Clinical dysmorphology 2009;18(2):116-9.
2008: Caroline Rooryck; Fanny Morice-Picard; Nursel H Elçioglu; Didier Lacombe; Alain Taieb; Benoît Arveiler
Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects.
Pigment cell & melanoma research 2008;21(5):583-7.
2008: Caroline Rooryck; Ingrid Burgelin; Marianne Stef; Laurence Taine; Jean-Benoît Thambo; Didier Lacombe; Benoît Arveiler
A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation.
European journal of medical genetics 2008;51(1):74-80.
2007: Caroline Rooryck; S Pelras; Jean-François Chateil; C Cances; Benoît Arveiler; Alain Verloes; Didier Lacombe; Cyril Goizet
Bardet-biedl syndrome and brain abnormalities.
Neuropediatrics 2007;38(1):5-9.
2006: Caroline Rooryck; Christel Roudaut; Eulalie Robine; Jörg Müsebeck; Benoît Arveiler
Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient.
Pigment cell research / sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society 2006;19(3):239-42.
2005: Thierry Lamireau; Sylviane Olschwang; Caroline Rooryck; Brigitte Le Bail; Jean-François Chateil; Didier Lacombe
SMAD4 germinal mosaicism in a family with juvenile polyposis and hypertrophic osteoarthropathy.
Journal of pediatric gastroenterology and nutrition 2005;41(1):117-20.
2004: Cyril Goizet; Isabelle Coupry; Caroline Rooryck; Laurence Taine; Virginie Dormoy; Didier Lacombe; Benoît Arveiler
Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy.
European journal of human genetics : EJHG 2004;12(3):245-50.