Academic Journals Database
Disseminating quality controlled scientific knowledge

Search Articles for "Genetic counseling"

ADD TO MY LIST
 
ELEMENTS OF RISK ASSESSMENT AND GENETIC COUNSELING IN CANCER

Author(s): Maria Puiu | Dorina Stoicanescu
Oral manifestations leading to the diagnosis of familial tuberous sclerosis

Author(s): Martelli Hercilio | Lima Leonardo | Bonan Paulo | Coletta Ricardo
A Case of Kartagener Syndrome

Author(s): Nasrin Ghasemi | Naeimeh Tayebi
Duchenne and Becker muscular dystrophies: An Indian update on genetics and rehabilitation

Author(s): Nadkarni Jayshree | Dastur Rashna | Viswanathan V | Gaitonde Pradnya | Khadilkar Satish
Neu-Laxova syndrome in an appropriate for gestational age newborn

Author(s): Dilli Dilek | Yasar Handan | Dilmen Ugur | Ceylaner Gulay
Cytogenetic Analysis of 584 Cases with Clinical Diagnosis of Down Syndrome

Author(s): M.Nail Alp | Diclehan Oral | Turgay Budak
Constitutive RB1 mutation in a child conceived by in vitro fertilization: implications for genetic counseling

Author(s): Barbosa Raquel | Vargas Fernando | Lucena Evandro | Bonvicino Cibele | Seuánez Héctor
Genetic testing and risk interpretation

Author(s): Yaniv Hanoch | Talya Miron-Shatz | Mary Himmelstein
Role of Some Biochemical Changes in Congenital Cataract

Author(s): Khaled Al-Menabbawy | Amr EL-Khashabb | Mohamad EL-Matarawy | Suzette Hela | Hesham Mottawie
Approach to a child with primary immunodeficiency

Author(s): Özlem Aktaş Hanımeli | Özge Yılmaz | Hasan Yüksel
Breast cancer susceptibility genes: Options for those carrying BRCA1 mutations

Author(s): Branković-Magić Mirjana | Janković Radmila | Radulović Siniša S.
Analysis of mutations in 17p 11.2 region in patients with Charcot-Marie-Tooth type 1 disease and patients with tomaculose neuropathy

Author(s): Zamurović Nataša | Milić Vedrana | Dačković Jelena | Zamurović Dragan | Čuljković Biljana | Pavlović Sanja | Apostolski Slobodan A. | Romac Stanka P.
Molecular studies of achondroplasia

Author(s): Nahar Risha | Saxena Renu | Kohli Sudha | Puri Ratna | Verma Ishwar
Cleidocranial dysplasia: A family report

Author(s): Chelvan H | Malathi N | Kailasam Vignesh | Ponnudurai A
A Case of Megalencephalic Leukoencephalopathy with Subcortical Cysts in an Iranian Consanguineous Family

Author(s): Mahmoud-Reza Ashrafi | Ariana Kariminejad | Houman Alizadeh | Bita Bozorgmehr | Sepideh Amoeian | Mohammad-Hasan Kariminejad
Subjective versus objective risk in genetic counseling for hereditary breast and/or ovarian cancers

Author(s): Caruso Anita | Vigna Cristina | Marozzo Bruna | Sega Fabio | Sperduti Isabella | Cognetti Francesco | Savarese Antonella
Ectrodactyly/split hand feet malformation

Author(s): Jindal Geetanjali | Parmar Veena | Gupta Vipul
Ataxia telangiectasia: Family management

Author(s): Seshachalam Arun | Cyriac Sanju | Reddy Neelesh | Gnana Sagar
Genetic characteristic of non-syndromal neurosensor children’s hearing loss in Uzbek population

Author(s): Nilufar Khushvakova | Rustam Mukhamedov | Abdumalik Hakimov
Familial Pancreatic Cancer

Author(s): Henry T. Lynch | Jane F. Lynch | Stephen J. Lanspa
Cytogenetics and Genetic Counseling of Patients in North India

Author(s): Iravathy Goud K, Vimarsh Raina, Sohani Verma,Geeta Chadha
Genetic and epigenetic factors: Role in male infertility

Author(s): Shamsi M | Kumar K | Dada R
Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report

Author(s): Murthy Sabita | Malhotra Ashok | Jacob Preenu | Naveed Sehba | Al-Rowaished Eman | Mani Sara | Padariyakam Shabeer | Pramathan R | Nath Ravi | Al-Ali Mahmoud | Al-Gazali Lihadh
Design of the BRISC study: a multicentre controlled clinical trial to optimize the communication of breast cancer risks in genetic counselling

Author(s): Ockhuysen-Vermey Caroline | Henneman Lidewij | van Asperen Christi | Oosterwijk Jan | Menko Fred | Timmermans Daniëlle
Charcot-Marie-Tooth disease: genetic and rehabilitation aspects

Author(s): Mariana CEVEI | Dorina STOICANESCU
Low Frequency of 185delAG Founder Mutation of BRCA1 Gene in Iranian Breast Cancer Patients

Author(s): Parvin Mehdipour | Saied Hosseini-Asl | Arezoo Savabi-E | Laleh Habibi | Ehsan Alvandi | Morteza Atri
Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male

Author(s): Kitsiou-Tzeli Sofia | Manolakos Emmanouil | Lagou Magdalini | Kontodiou Maria | Kosyakova Nadezda | Ewers Elisabeth | Weise Anja | Garas Antonios | Orru Sandro | Liehr Thomas | Metaxotou Aikaterini
Microdeletion Study in Children with Selective Congenital Heart Disease; an Iranian Multicenter Study

Author(s): Ali-Akbar Zeinaloo | Abdorazaagh Kiani | Parvin Akbari-Asbagh | Mohammad-Reza Noori-Dalooi | Elham Ghadami-Yazdi | Tayebeh Sabokbar | Asgar Aghamohammadi | Mahmood-Gholam Alemohammad | Sima Rafeyan | Jila Dastan | Saeed-Reza Ghaffari
Some hereditary and environmental aspects in cystic fibrosis cases from Cartagena (Colombia)

Author(s): Dacia Malambo | Doris Gómez | Luis Veloza | Jorge Arbeláez | Claudio Gómez
Knowledge about hereditary nonpolyposis colorectal cancer; mutation carriers and physicians at equal levels

Author(s): Domanska Katarina | Carlsson Christina | Bendahl Pär-Ola | Nilbert Mef
A model to optimize public health care and downstage breast cancer in limited-resource populations in southern Brazil. (Porto Alegre Breast Health Intervention Cohort)

Author(s): Caleffi Maira | Ribeiro Rodrigo | Filho Dakir | Ashton-Prolla Patrícia | Bedin Ademar | Skonieski Giovana | Zignani Juliana | Giacomazzi Juliana | Franco Luciane | Graudenz Márcia | Pohlmann Paula | Fernandes Jefferson | Kivitz Philip | Weber Bernardete
PRINCIPLES OF CLINIC GENETICS AND GENETIC COUNSELING

Author(s): Ljubiša Mihajlović | Nevenka K. Mihajlović | Živojin Stanković
Premarital hemoglobinopathy screening in Kocaeli, Turkey: a crowded industrial center on the north coast of Marmara Sea

Author(s): Nazan Sarper | Vijdan Şenkal | Fatih Güray | Özcan Şahin | Jülide Bayram
PRIMARY OVARIAN INSUFFICIENCY

Author(s): Zoran Protrka | Olivera Protrka | Mirjana Varjacic | Momcilo Djordjevic
Pure bilateral endodermal sinus tumor in a female case of Ullrich-Turner syndrome with 45,X/46,XY karyotype

Author(s): Ebru Önalan Etem | Hüseyin Yüce | Hüsnü Çelik | Ferda Dağlı | Tamer Elkıran
Consanguinity and major genetic disorders in Saudi children : A community-based cross-sectional study

Author(s): El Mouzan Mohammad | Al Salloum Abdullah | Al Herbish Abdullah | Qurachi Mansour | Al Omar Ahmad
Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China

Author(s): Yuan Yongyi | You Yiwen | Huang Deliang | Cui Jinghong | Wang Yong | Wang Qiang | Yu Fei | Kang Dongyang | Yuan Huijun | Han Dongyi | Dai Pu
The Exstrophy-epispadias complex

Author(s): Ebert Anne-Karoline | Reutter Heiko | Ludwig Michael | Rösch Wolfgang
CYTOGENETIC ANALYSIS IN INFERTILE MALES WITH SPERM ANOMALIES

Author(s): Ebru Önalan Etem | Hüseyin Yüce | Deniz Erol | Şükriye Derya Deveci | Gülay Güleç Ceylan | Halit Elyas
Segmental neurofibromatosis: A report of 3 cases

Author(s): Gabhane Sushma | Kotwal Mrunmayi | Bobhate Sudhakar
Uptake of genetic testing and long-term tumor surveillance in von Hippel-Lindau disease

Author(s): Rasmussen Astrid | Alonso Elisa | Ochoa Adriana | De Biase Irene | Familiar Itziar | Yescas Petra | Sosa Ana-Luisa | Rodríguez Yaneth | Chávez Mireya | López-López Marisol | Bidichandani Sanjay
A review of trisomy X (47,XXX)

Author(s): Tartaglia Nicole | Howell Susan | Sutherland Ashley | Wilson Rebecca | Wilson Lennie
Cytogenetics and etiology of ambiguous genitalia in 120 pediatric patients.

Author(s): Al-Mutair A | Iqbal M | Sakati N | Ashwal A
Pattern of childhood blindness at a referral center in Saudi Arabia.

Author(s): Tabbara Khalid | El-Sheikh Hisham | Shawaf Shucri
A morpho-etiological description of congenital limb anomalies.

Author(s): Tayel S | Fawzia M | Al-Naqeeb Niran | Gouda Said | Al Awadi S | Naguib K
Beta-thalassemia

Author(s): Galanello Renzo | Origa Raffaella
Paternally derived translocation t(8;18)(q22.1;q22)pat associated in a patient with developmental delay: Case report and review

Author(s): Rao Lakshmi | Kanakavalli Murthy | Padmalatha Venkata | Nallari Pratibha | Singh Lalji
Four small supernumerary marker chromosomes derived from chromosomes 6, 8, 11 and 12 in a patient with minimal clinical abnormalities: a case report

Author(s): Fernández-Toral Joaquín | Rodríguez Laura | Plasencia Ana | Martínez-Frías María | Ewers Elisabeth | Hamid Ahmed | Ziegler Monika | Liehr Thomas
Prevalence of Genetic Disorders in Pediatric Emergency Department Al Galaa Teaching Hospital

Author(s): N.A. Meguid | S.M. El Bayoumi | N.F. Hamdi | W.N. Amen | M. Sayed | A. Mahmoud
Assessment of Knowledge and Attitude of Medical Student Toward Genetic Counselling and Therapeutic Abortion

Author(s): Nasrin Ghasemi | Jamshid Ayatolahi | Mohammad Hossein Mosaddegh
Study of Possible Genetic Factors Determining the Clinical Picture of Thalassemia Intermedia

Author(s): N. Kaddah | S. Rizk | A.M. Kaddah | K. Salama | H. Lotfy
Identification of a novel mutation in an Indian patient with CAII deficiency syndrome

Author(s): Shivaprasad C | Paliwal P | Khadgawat R | Sharma A
Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers

Author(s): Peretti Noel | Sassolas Agnès | Roy Claude | Deslandres Colette | Charcosset Mathilde | Castagnetti Justine | Pugnet-Chardon Laurence | Moulin Philippe | Labarge Sylvie | Bouthillier Lise | Lachaux Alain | Levy Emile
The results of cytogenetic analyses in prenatal diagnosis

Author(s): Jovanović-Privrodski Jadranka | Kavečan Ivana | Krstić Aleksandar | Gaćina Ljiljana
Gene therapy in glaucoma-3: Therapeutic approaches

Author(s): Mahdy Mohamed Abdel-Monem
Exploration of transitional life events in individuals with Friedreich ataxia: Implications for genetic counseling

Author(s): White V Brook | Leib Jennifer | Farmer Jennifer | Biesecker Barbara
A Delayed Diagnosis in a Patient with Intractable Leg Ulcer: Werner’s Syndrome

Author(s): Ali Murat Ceyhan | Didem Mullaaziz | Mehmet Yıldırım | Mahmut Yener | Vahide Baysal Akkaya
A review on primary progressive aphasia

Author(s): Gabriel C Léger | Nancy Johnson
HE4 in the Differential Diagnosis of a Pelvic Mass: A Case Report

Author(s): Emanuela Anastasi | Teresa Granato | Anna Coppa | Lucia Manganaro | Giuseppe Giannini | Sara Comploj | Luigi Frati | Cecilia Midulla
Oculopharyngeal Muscular Dystrophy - A Genetically Verified Taiwanese Family

Author(s): Chia-Ling Huang | Shey-Lin Wu | Szu-Chia Lai | Chin-Song Lu | Yah-Huei Wu-Chou
Design, baseline characteristics, and retention of African American light smokers into a randomized trial involving biological data

Author(s): Cox Lisa | Faseru Babalola | Mayo Matthew | Krebill Ron | Snow Tricia | Bronars Carrie | Nollen Nicole | Choi Won | Okuyemi Kolawole | Salzman Gary | Benowitz Neal | Tyndale Rachel | Ahluwalia Jasjit
Behavioral and psychosocial effects of rapid genetic counseling and testing in newly diagnosed breast cancer patients: Design of a multicenter randomized clinical trial

Author(s): Wevers Marijke | Ausems Margreet | Verhoef Senno | Bleiker Eveline | Hahn Daniela | Hogervorst Frans | van der Luijt Rob | Valdimarsdottir Heiddis | van Hillegersberg Richard | Rutgers Emiel | Aaronson Neil
Fabry disease

Author(s): Germain Dominique
GENOMIC MEDICINE

Author(s): Ignacio Briceño Balcázar
In vitro fertilization/intracytoplasmic sperm injection for male infertility

Author(s): Merchant Rubina | Gandhi Goral | Allahbadia Gautam
Ocular status and functional adaptation of visually challenged children of a special school in Oman

Author(s): Khandekar Rajiv | Shah Rikin | Shah Manali | Al Harby Salah | Vora Urmi | Al Balushi Faiza
Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci

Author(s): Morcel Karine | Watrin Tanguy | Pasquier Laurent | Rochard Lucie | Le Caignec Cédric | Dubourg Christèle | Loget Philippe | Paniel Bernard-Jean | Odent Sylvie | David Véronique | Pellerin Isabelle | Bendavid Claude | Guerrier Daniel
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
Gitelman syndrome

Author(s): Knoers Nine | Levtchenko Elena
Prenatal diagnosis--principles of diagnostic procedures and genetic counseling.

Author(s): Agnieszka Stembalska | Ryszard Slezak | Karolina Pesz | Justyna Gil | Maria Sasiadek
Genetic Counseling in Renal Masses

Author(s): José Antonio López-Guerrero | Zaida García-Casado | Antonio Fernández-Serra | José Rubio-Briones
ABO Bloods group incompatibility in recurrent abortion

Author(s): Ghasemi.N | Sheikhha.MH | Davar.R | Soleimanian.S
Microdeletion Study in Children with Selective Congenital Heart Disease; an Iranian Multicenter Study

Author(s): Ali-Akbar Zeinaloo | Abdorazaagh Kiani | Parvin Akbari-Asbagh | Mohammad-Reza Noori-Dalooi | Elham Ghadami-Yazdi | Tayebeh Sabokbar | Asgar Aghamohammadi | Mahmood-Gholam Alemohammad | Sima Rafeyan | Jila Dastan | Saeed-Reza Ghaffari
A Case of Megalencephalic Leukoencephalopathy with Subcortical Cysts in an Iranian Consanguineous Family

Author(s): Mahmoud-Reza Ashrafi | Ariana Kariminejad | Houman Alizadeh | Bita Bozorgmehr | Sepideh Amoeian | Mohammad-Hasan Kariminejad
Detecting Common CFTR Mutations by Reverse Dot Blot Hybridization Method in Cystic Fibrosis; First Report from Northern Iran

Author(s): Mohammad-Reza Dooki Esmaeili | Haleh Akhavan-Niaki | Ali Juibary Ghabeli
Molecular Diagnosis of Congenital Adrenal Hyperplasia in Iran: Focusing on CYP21A2 Gene

Author(s): Bahareh Rabbani | Nejat Mahdieh | Mohammad-Taghi Haghi Ashtiani | Mohammad-Taghi Akbari | Ali Rabbani
ATTITUDE AND KNOWLEDGE OF MOTHERS

Author(s): FURQAN SHUKR | ALMAS YASMEEN | SALMAN ALI,
Beta-globin gene mutations in children with beta-thalassemia major from Şanlıurfa province, Turkey

Author(s): Ali Ayçiçek | Ahmet Koç | Zeynep Canan Özdemir | Hasan Bilinç | Abdurrahim Koçyiğit | Fuat Dilmeç
Two cases of pseudoxanthoma elasticum with renal involvement

Author(s): Esmat Ghanei | Seyyed Mohammad Homayouni | Alireza Nasrollahi
Atypical hemolytic uremic syndrome

Author(s): Loirat Chantal | Frémeaux-Bacchi Véronique
Prevalence of head and neck abnormalities among people with consanguineous parents

Author(s): Razmpa E | Azimi C | Soltan Sanjarei M | Nazari H | Ghasempoure A | Yousefi M
Genetic Analysis of Oculocutaneous Albinism Type1A (OCA1A) in an Iranian Family

Author(s): H Pour-Jafari | A Zamanian | B Pour-Jafari
Investigation of RBC Indices and HbA2 Levels in Parents of Beta-Thalassemia Patients: Impacts on Premarital Genetic Counseling

Author(s): Mina Izadyar | Jila Dastan | Tayebeh Sabokbar | Solmaz Shoraka | Azadeh Shojaei | Habib Nasiri | Saeed Reza Ghaffari
Las competencias en la Orientación del Siglo XXI: un acercamiento a la realidad costarricense / Skills in the XXI Century Guidance: An Approach to the Costa Rican Reality

Author(s): Alejandra Gamboa Jiménez | Juan Ortega Rojas | Virginia Cerdas Montano | Manuel Arturo Fallas Vargas | Juan Vargas Fonseca
Leukocyte Adhesion Deficiency: Report of Two Family Related Newborn Infants

Author(s): Zohreh Kavehmanesh | Zahra Khalili Matinzadeh | Susan Amirsalari | Mohammad Torkaman | Shahla Afsharpayman | Morteza Javadipour
Epidemiological Aspects of Cleft Lip and Palate in Iran

Author(s): Alireza Karimee Yazdee | Babak Saedi | Amir Arvin Sazegar | Parvin Mehdipour
Rare Syndromes Associated with Infertility

Author(s): Hempel M | Buchholz T
Recurrent Spontaneous Abortions- An Update on Diagnosis and Management

Author(s): Pildner von Steinburg S | Schneider KTM
Polar Body Diagnosis for Monogenic Disorders in Regensburg

Author(s): Hehr A | Seifert B | Hehr U | Bals-Pratsch M
Time for education in cardiogenetics

Author(s): Philippe Charron | Perry Elliott
Tafazzin gene mutations are uncommon causes of dilated cardiomyopathy in adults

Author(s): Matthew Taylor | Dobromir Slavov | Ernesto Salcedo | Xiao Zhu | Deborah Ferguson | Jean Jirikowic | Andrea Di Lenarda | Gianfranco Sinagra | Luisa Mestroni
A prenatal tertiary trisomy resulting from balanced maternal 8; 9 translocation

Author(s): Gülsüm Kayhan | Mehmet Ali Ergün | Aydan Asyalı Biri | Meral Yirmibeş Karaoğuz
Glucose-6-phosphatase deficiency

Author(s): Froissart Roseline | Piraud Monique | Boudjemline Alix | Vianey-Saban Christine | Petit François | Hubert-Buron Aurélie | Eberschweiler Pascale | Gajdos Vincent | Labrune Philippe
FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes

Author(s): Seixas Ana | Vale José | Jorge Paula | Marques Isabel | Santos Rosário | Alonso Isabel | Fortuna Ana | Pinto-Basto Jorge | Coutinho Paula | Margolis Russell | Sequeiros Jorge | Silveira Isabel
Machado-Joseph Disease: from first descriptions to new perspectives

Author(s): Bettencourt Conceição | Lima Manuela
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

Author(s): Bonnet Crystel | Grati M'hamed | Marlin Sandrine | Levilliers Jacqueline | Hardelin Jean-Pierre | Parodi Marine | Niasme-Grare Magali | Zelenika Diana | Délépine Marc | Feldmann Delphine | Jonard Laurence | El-Amraoui Aziz | Weil Dominique | Delobel Bruno | Vincent Christophe | Dollfus Hélène | Eliot Marie-Madeleine | David Albert | Calais Catherine | Vigneron Jacqueline | Montaut-Verient Bettina | Bonneau Dominique | Dubin Jacques | Thauvin Christel | Duvillard Alain | Francannet Christine | Mom Thierry | Lacombe Didier | Duriez Françoise | Drouin-Garraud Valérie | Thuillier-Obstoy Marie-Françoise | Sigaudy Sabine | Frances Anne-Marie | Collignon Patrick | Challe Georges | Couderc Rémy | Lathrop Mark | Sahel José-Alain | Weissenbach Jean | Petit Christine | Denoyelle Françoise
9q22 Deletion - First Familial Case

Author(s): Siggberg Linda | Peippo Maarit | Sipponen Marjatta | Miikkulainen Taina | Shimojima Keiko | Yamamoto Toshiyuki | Ignatius Jaakko | Knuutila Sakari
Colonoscopic perforation leading to a diagnosis of Ehlers Danlos syndrome type IV: a case report and review of the literature

Author(s): Rana Mariam | Aziz Omer | Purkayastha Sanjay | Lloyd Josephine | Wolfe John | Ziprin Paul
Fetal loss rates after mid-trimester amniocentesis

Author(s): Ilker Arikan | Muge Harma | Aykut Barut | Mehmet Ibrahim Harma | Ulku Bayar
Molecular Diagnosis of Congenital Adrenal Hyperplasia in Iran: Focusing on CYP21A2 Gene

Author(s): Bahareh Rabbani | Nejat Mahdieh | Mohammad-Taghi Haghi Ashtiani | Mohammad-Taghi Akbari | Ali Rabbani
Telemedicine vs in-person cancer genetic counseling: measuring satisfaction and conducting economic analysis

Author(s): Datta SK | Buchanan AH | Hollowell GP | Beresford HF | Marcom PK | Adams MB
Detecting Common CFTR Mutations by Reverse Dot Blot Hybridization Method in Cystic Fibrosis First Report from Northern Iran

Author(s): Mohammad-Reza Dooki Esmaeili | Haleh Akhavan-Niaki | Ali Juibary Ghabeli
Affiliate Program      Why do you need a reservation system?