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TRISOMY 18 in a 50-year-old female

Author(s): Bhanumathi B | Goyel Neelam | Mishra Z
Autistic disorder associated with a paternally derived unbalanced translocation leading to duplication of chromosome 15pter-q13.2: a case report

Author(s): Wu David | Wang Nicholas | Driscoll Jennette | Dorrani Naghmeh | Liu Dahai | Sigman Marian | Schanen N Carolyn
Partial trisomy 9p22 to 9p24.2 in combination with partial monosomy 9pter in a Syrian girl

Author(s): Al Achkar Walid | Wafa Abdulsamad | Moassass Faten | Liehr Thomas
Distal Xq duplication and functional Xq disomy

Author(s): Sanlaville Damien | Schluth-Bolard Caroline | Turleau Catherine
Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH

Author(s): Tyson Christine | Qiao Ying | Harvard Chansonette | Liu Xudong | Bernier Francois | McGillivray Barbara | Farrell Sandra | Arbour Laura | Chudley Albert | Clarke Lorne | Gibson William | Dyack Sarah | McLeod Ross | Costa Teresa | VanAllen Margot | Yong Siu-li | Graham Gail | MacLeod Patrick | Patel Millan | Hurlburt Jane | Holden Jeanette | Lewis Suzanne | Rajcan-Separovic Evica
Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients

Author(s): Drera Bruno | Ritelli Marco | Zoppi Nicoletta | Wischmeijer Anita | Gnoli Maria | Fattori Rossella | Calzavara-Pinton Pier | Barlati Sergio | Colombi Marina
Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pair

Author(s): Aktas Dilek | Utine Eda | Mrasek Kristin | Weise Anja | von Eggeling Ferdinand | Yalaz Kalbiye | Posorski Nicole | Akarsu Nurten | Alikasifoglu Mehmet | Liehr Thomas | Tuncbilek Ergul
Dental and craniofacial characteristics in a patient with Dubowitz syndrome: a case report

Author(s): Ballini Andrea | Cantore Stefania | Tullo Domenica | Desiate Apollonia
A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32

Author(s): Hattersley Kathryn | Laurie Kate | Liebelt Jan | Gecz Jozef | Durkin Shane | Craig Jamie | Burdon Kathryn
Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boy

Author(s): Manolakos Emmanouil | Sarri Catherine | Vetro Annalisa | Kefalas Konstantinos | Leze Eleni | Sofocleus Christalena | Kitsos George | Merou Konstantina | Kokotas Haris | Papadopoulou Anna | Attilakos Achilleas | Petersen Michael | Kitsiou-Tzeli Sofia
Schwartz-jampel syndrome: report of five cases

Author(s): Reed Umbertina Conti | Reimão Rubens | Espíndola Adriana Ávila | Kok Fernando | Ferreira Lúcio Gobbo | Resende Maria Bernardete Dutra | Messias Thelma Correia | Carvalho Mary Souza | Diament Aron | Scaff Milberto | Marie Suely Kazue Nagahashi
Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome

Author(s): Schüle Birgitt | Albalwi Mohammed | Northrop Emma | Francis David | Rowell Margaret | Slater Howard | Gardner RJ McKinlay | Francke Uta
Peroxisomal proliferator activated receptor-γ deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3)

Author(s): Francis Gordon | Li Gang | Casey Robin | Wang Jian | Cao Henian | Leff Todd | Hegele Robert
Writing and reading disorder in Silver-Russell syndrome

Author(s): Renata Cavalcante Barbosa | Erlane Marques Ribeiro | Célia Maria Giacheti
Establishment of a pipeline to analyse non-synonymous SNPs in Bos taurus

Author(s): Lee Michael | Keane Orla | Glass Belinda | Manley Tim | Cullen Neil | Dodds Ken | McCulloch Alan | Morris Chris | Schreiber Mark | Warren Jonathan | Zadissa Amonida | Wilson Theresa | McEwan John
Successful bone marrow transplantation in a patient with DNA ligase IV deficiency and bone marrow failure

Author(s): Gruhn Bernd | Seidel Joerg | Zintl Felix | Varon Raymonda | Tönnies Holger | Neitzel Heidemarie | Bechtold Astrid | Hoehn Holger | Schindler Detlev
Mowat-Wilson syndrome

Author(s): Garavelli Livia | Mainardi Paola
Syndromic (phenotypic) diarrhea in early infancy

Author(s): Goulet Olivier | Vinson Christine | Roquelaure Bertrand | Brousse Nicole | Bodemer Christine | Cézard Jean-Pierre
Array-CGH in patients with Kabuki-like phenotype: Identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration

Author(s): Cuscó Ivon | del Campo Miguel | Vilardell Mireia | González Eva | Gener Blanca | Galán Enrique | Toledo Laura | Pérez-Jurado Luis
Identification of Phox2b-regulated genes by expression profiling of cranial motoneuron precursors

Author(s): Pla Patrick | Hirsch Marie-Rose | Le Crom Stéphane | Reiprich Simone | Harley Vincent | Goridis Christo
Muscle-specific integrins in masseter muscle fibers of chimpanzees: an immunohistochemical study.

Author(s): Angelo Favaloro | Giampiero Speranza | Silvia Rezza | Valentina Gatta | Gianluigi Vaccarino | Liborio Stuppia | Felice Festa | Giuseppe Anastasi
Submicroscopic interstitial deletion of chromosome 11q22.3 in a girl with mild mental retardation and facial dysmorphism: Case report

Author(s): Krgovic Danijela | Marcun Varda Natasa | Zagorac Andreja | Kokalj-Vokac Nadja
Atrioventricular canal defect and associated genetic disorders: new insights into polydactyly syndromes

Author(s): M. Cristina Digilio | Paolo Versacci | Francesca Lepri | Anwar Baban | Bruno Dallapiccola | Bruno Marino
Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome

Author(s): Roberti Maria | Surace Cecilia | Digilio Maria | D'Elia Gemma | Sirleto Pietro | Capolino Rossella | Lombardo Antonietta | Tomaiuolo Anna | Petrocchi Stefano | Angioni Adriano
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