Works matching DE "CONSANGUINITY"

Results: 1767

Analysis of some determining factors of consanguinity in North Morocco: a cross-sectional epidemiological study.

Published in:

Pan African Medical Journal, 2024, v. 49, p. 1, doi. 10.11604/pamj.2024.49.133.34881

By:

Hardouz, Houria;
Zghaid, Mustapha;
Arfaoui, Amine;
Quyou, Ali

Publication type:

Article

Familial multiple lipomatosis in a 13-year-old child.

Published in:

Pan African Medical Journal, 2024, v. 49, p. 1, doi. 10.11604/pamj.2024.49.129.14033

By:

Laaraje, Azzeddine;
Ourrai, Abdelhakim

Publication type:

Article

Prevalence and Risk Factors of Congenital Hearing Loss in Turkey: A Systematic Review.

Published in:

Neonatal Network, 2025, v. 44, n. 3, p. 197, doi. 10.1891/NN-2024-0054

By:

Sökmen, Yasemin;
Kaya Odabaş, Resmiye;
Taşpinar, Ayten

Publication type:

Article

A case of rapidly growing conjunctival squamous cell carcinoma in a 3-year-old child with xeroderma pigmentosum: a case report.

Published in:

2025

By:

Reta, Birhanu Kassie;
Weldegebriel, Micheale Hailu;
Hagos, Hindeya Hailu;
Embaye, Nebiat Zerabiruk;
Fisseha, Welday Tadesse;
Kidanemariam, Kibra Sebuh

Publication type:

Case Study

A genomic tale of inbreeding in western Mediterranean human populations.

Published in:

Human Genetics, 2025, v. 144, n. 6, p. 615, doi. 10.1007/s00439-025-02747-9

By:

Hernández, Candela L.;
Sánchez-Martínez, Luis J.;
Ceballos, Francisco C.;
Dugoujon, Jean M.;
Pereira, Luisa;
Calderón, Rosario

Publication type:

Article

Phenotypic Variations in Clinical Presentations of Paramyotonia Congenita in Two Brothers.

Published in:

2025

By:

Tayade, Kamalesh;
Ghadi, Vishakha;
Asole, Dynaneshwar;
Bharote, Haresh;
Venkatachalam, Anil

Publication type:

Letter

Hypotrichosis and Juvenile Macular Dystrophy-First Homozygous Family Case from Türkiye.

Published in:

Turkish Journal of Dermatology / Turk Dermatoloji Dergisis, 2025, v. 19, n. 2, p. 1, doi. 10.4274/tjd.galenos.2025.02996

By:

Caf, Nazlı;
Gezdirici, Alper;
Karapapak, Murat;
Kırsoy, Erişcan Melih;
Çetinkaya, Elif;
Yılmaz, Halil İbrahim;
Türkoğlu, Zafer

Publication type:

Article

Autosomal recessive primary microcephaly in sibs in time of Zika epidemic: a Case Report.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1565296

By:

Almeida, Julia V.;
Abdala, Bianca Barbosa;
Rabelo, Natana Chaves;
Gomes, Maria Eduarda;
Ferreira Bastos, Elenice;
Llerena Jr., Juan Clinton;
Gonzalez, Sayonara

Publication type:

Article

A novel mutation in CNNM4 is associated with a case of Jalili syndrome in Egypt.

Published in:

2025

By:

Tawfik, Caroline Atef;
Aly, Haneen Sabry;
Kabeel, Menna;
Yousri, Iman;
Mohamed, Sara Abdallah

Publication type:

Case Study

Duchenne Muscular Distrophy In Tafí Del Valle, Tucumán, Argentina.

Published in:

Medicina (Buenos Aires), 2025, v. 85, n. 2, p. 281

By:

Sarandría, María Eugenia;
Rey, Roberto;
de Rosa, Rodrigo;
Corbalán, Vanesa;
Mesa, Lilia

Publication type:

Article

Duchenne Muscular Distrophy In Tafí Del Valle, Tucumán, Argentina.

Published in:

Medicina (Buenos Aires), 2025, v. 85, n. 2, p. 281

By:

Sarandría, María Eugenia;
Rey, Roberto;
de Rosa, Rodrigo;
Corbalán, Vanesa;
Mesa, Lilia

Publication type:

Article

Genetic Variants in Early-Onset Inflammatory Bowel Disease: Monogenic Causes and Clinical Implications.

Published in:

Children, 2025, v. 12, n. 5, p. 536, doi. 10.3390/children12050536

By:

Demirtas Guner, Duygu;
Bildik, Hacer Neslihan;
Demir, Hulya;
Cagdas, Deniz;
Saltik Temizel, Inci Nur;
Ozgul, Riza Koksal;
Hizarcioglu Gulsen, Hayriye;
Tan, Cagman;
Cicek, Begum;
Ozen, Hasan;
Yuce, Aysel;
Tezcan, Ilhan

Publication type:

Article

ALÉM DO INDIVIDUALISMO URBANO: MICROPOLÍTICAS DAS FAMÍLIAS E GERAÇÕES NA OBRA DE GILBERTO VELHO.

Published in:

Sociologia & Antropologia, 2024, v. 14, n. 3, p. 1, doi. 10.1590/2238-38752024v14313

By:

Bispo, Raphael;
Zampiroli, Oswaldo

Publication type:

Article

Unique Dermatological and Systemic Manifestations in a Classic Pediatric Case of Kindler Syndrome: A Case Report and Literature Review.

Published in:

Clinical Medicine Insights: Case Reports, 2025, p. 1, doi. 10.1177/11795476251342637

By:

Aamir, Muhammad;
Faizullah, Fahad;
Khan, Malik W. Z.;
Azeem, Touba;
Khan, Muhammad Awais

Publication type:

Article

Consanguineous Marriages and Child Ever Born—The Moderating Role of Working Women.

Published in:

American Journal of Human Biology, 2025, v. 37, n. 5, p. 1, doi. 10.1002/ajhb.70043

By:

Saleem, Muhammad Usman;
Khatir, Abdul Ghani;
Shah, Athar Ali;
Jiang, Quanbao

Publication type:

Article

Domestic violence and consanguineous marriages -- perspective from Rawalpindi, Pakistan.

Published in:

Eastern Mediterranean Health Journal, 2013, v. 19, p. S204

By:

Shaikh, M. Ali;
Kayani, A.;
Shaikh, I. Ali

Publication type:

Article

Sanjad Sakati syndrome: a case series from Jordan.

Published in:

Eastern Mediterranean Health Journal, 2012, v. 18, n. 5, p. 527, doi. 10.26719/2012.18.5.527

By:

Albaramki, J.;
Akl, K.;
Al- Muhtaseb, A.;
Al-Shboul, M.;
Mahmoud, T.;
El-Khateeb, M.;
Hamamy, H.

Publication type:

Article

A distinct autosomal recessive ocular anomaly in Chaharborj, Islamic Republic of Iran.

Published in:

Eastern Mediterranean Health Journal, 2012, v. 18, n. 1, p. 24, doi. 10.26719/2012.18.1.24

By:

Khakshoor, H.;
Daneshvar, R.;
Banaee, T.;
Tabatabaee Yazdi, S. A.;
Hasanzadeh Nazarabadi, M.;
Moosavi, M.;
Tavassoli, F.;
Mahdavi, R.

Publication type:

Article

Causes and anatomical site of blindness and severe visual loss in Isfahan, Islamic Republic of Iran.

Published in:

Eastern Mediterranean Health Journal, 2010, v. 16, n. 2, p. 228, doi. 10.26719/2010.16.2.228

By:

Dehghan, A.;
Kianersi, F.;
Moazam, E.;
Ghanbari, H.

Publication type:

Article

HEALTH PROFILE OF PREGNANT WOMEN WITH ANTIPHOSPHOLIPID SYNDROME AT CAIRO UNIVERSITY HOSPITALS, EGYPT.

Published in:

West African Journal of Nursing, 2015, v. 26, n. 2, p. 1

By:

Mahmoud, Fatma Zaghloul;
Hamid, Azza Ali Abd El;
Hosni, Ahmed Naguib;
Abdl-monem, Amel Shaaban

Publication type:

Article

Changing panorama in risk factors of cerebral palsy.

Published in:

Vojnosanitetski Pregled: Military Medical & Pharmaceutical Journal of Serbia, 2024, v. 81, n. 12, p. 732, doi. 10.2298/VSP240505069D

By:

Karatekin, Bilinc Dogruoz;
Icagasioglu, Afitap

Publication type:

Article

Amniotic Band Syndrome.

Published in:

Indian Journal of Surgery, 2013, v. 75, n. 5, p. 401, doi. 10.1007/s12262-012-0468-x

By:

Shetty, Prathvi;
Menezes, Leo;
Tauro, Leo;
Diddigi, Kumar

Publication type:

Article

Two siblings with atypical pantothenate-kinase-associated neurodegeneration.

Published in:

2019

By:

K, Gunasekaran;
S, Sivakumar;
K, Thiruvarutchelvan

Publication type:

Case Study

Die insestaboe in 'n regstaat: regsantropologiese kantaantekeninge.

Published in:

South African Journal of Ethnology, 1999, v. 22, n. 2, p. 59

By:

Labuschagne, J.M.T.

Publication type:

Article

Pathogenesis of acephalic spermatozoa syndrome caused by splicing mutation and de novo deletion in TSGA10.

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 10, p. 2791, doi. 10.1007/s10815-021-02295-x

By:

Xiang, Mingfei;
Wang, Yu;
Xu, Weilong;
Zheng, Na;
Zhang, Jingjing;
Duan, Zongliu;
Zha, Xiaomin;
Shi, Xuanming;
Wang, Fengsong;
Cao, Yunxia;
Zhu, Fuxi

Publication type:

Article

The homozygous p.Tyr228Cys variant in CDC20 causes oocyte maturation arrest: an additional evidence supporting the causality between CDC20 mutation and female infertility.

Published in:

Journal of Assisted Reproduction & Genetics, 2021, v. 38, n. 8, p. 2219, doi. 10.1007/s10815-021-02269-z

By:

Xu, Yao;
Zhu, Xiuxian;
Wang, Miao;
Cai, Luyi;
Ge, Qiulin;
Fu, Yonglun;
Jin, Liping

Publication type:

Article

Maximum number of children per sperm donor based on false paternity rate.

Published in:

Journal of Assisted Reproduction & Genetics, 2017, v. 34, n. 3, p. 345, doi. 10.1007/s10815-016-0860-8

By:

Sánchez-Castelló, Isabel;
Gonzalvo, María;
Clavero, Ana;
López-Regalado, María;
Mozas, Juan;
Martínez-Granados, Luis;
Navas, Purificación;
Castilla, José

Publication type:

Article

Intensive Kinship, Development, and Demography: Why Pakistan has the Highest Rates of Cousin Marriage in the World.

Published in:

Population & Development Review, 2024, v. 50, n. 4, p. 1045, doi. 10.1111/padr.12678

By:

Shenk, Mary K.;
Naz, Saman;
Chaudhry, Theresa

Publication type:

Article

Distinct neurological phenotypes associated with biallelic loss of NOTCH3 function: evidence for recessive inheritance.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09560-z

By:

Tasharrofi, Behnoosh;
Najafi, Ali;
Pourbakhtyaran, Elham;
Amirsalari, Susan;
Khan, Golazin Shahbodagh;
Ashrafi, Mahmoud Reza;
Tavasoli, Ali Reza;
Keramatipour, Mohammad;
Heidari, Morteza

Publication type:

Article

Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: Roles of parental consanguinity and assortative mating (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #608 (2002) online http://www.interscience.wiley.com/humanmutation/pdf/mutation/608.pdf)

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 552, doi. 10.1002/humu.9137

By:

Mustafa Tekin;
Türker Duman;
Gönül Boğoçlu;
Armağan İncesulu;
Elif Çomak;
İnci Ilhan;
Nejat Akar

Publication type:

Article

Spectrum of GJB2 mutations in Turkey comprises both Caucasian and Oriental variants: Roles of parental consanguinity and assortative matingCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #608 (2002) onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/608.pdf

Published in:

Human Mutation, 2003, v. 21, n. 5, p. 552, doi. 10.1002/humu.9137

By:

Mustafa Tekin;
Türker Duman;
Gönül Boğoçlu;
Armağan İncesulu;
Elif Çomak;
İnci Ilhan;
Nejat Akar

Publication type:

Article

Genetic study of eight Egyptian patients with pycnodysostosis: identification of novel CTSK mutations and founder effect.

Published in:

Osteoporosis International, 2018, v. 29, n. 8, p. 1833, doi. 10.1007/s00198-018-4555-0

By:

Otaify, G. A.;
Abdel-Hamid, M. S.;
Mehrez, M. I.;
Aboul-Ezz, E.;
Zaki, M. S.;
Aglan, M. S.;
Temtamy, S. A.

Publication type:

Article

Characterization of mitochondrial DNA control region lineages in Iraq.

Published in:

International Journal of Legal Medicine, 2013, v. 127, n. 2, p. 373, doi. 10.1007/s00414-012-0757-8

By:

Al-Zahery, Nadia;
Saunier, Jessica;
Ellingson, Katharine;
Parson, Walther;
Parsons, Thomas;
Irwin, Jodi

Publication type:

Article

The Brothers Powys.

Published in:

1984

By:

Lock, Charles

Publication type:

Book Review

A Novel Variant in the Endothelin-Converting Enzyme-Like 1 (ECEL1) Gene in an Emirati Child.

Published in:

2017

By:

Hamzeh, abdul Rezzak;
Nair, Pratibha;
Mohamed, Madiha;
Saif, Fatima;
Tawfiq, Nafisa;
Khalifa, Mohamed;
al-ali, Mahmoud Taleb;
Bastaki, Fatma

Publication type:

journal article

Marinesco-Sjögren Syndrome in an Emirati Child with a Novel Mutation in SIL1 Affecting the 5' Untranslated Region.

Published in:

2016

By:

Nair, Pratibha;
Hamzeh, abdul Rezzak;
Mohamed, Madiha;
Tawfiq, Nafisa;
al-ali, Mahmoud Taleb;
Bastaki, Fatma

Publication type:

journal article

The Prevalence of Attention Deficit Hyperactivity Symptoms in Schoolchildren in a Highly Consanguineous Community.

Published in:

Medical Principles & Practice, 2008, v. 17, n. 6, p. 440, doi. 10.1159/000151564

By:

Bener, Abdulbari;
Al Qahtani, Razna;
Teebi, Ahmad S.;
Bessisso, Mohammed

Publication type:

Article

Consanguineous Marriages and Their Effects on Common Adult Diseases: Studies from an Endogamous Population.

Published in:

Medical Principles & Practice, 2007, v. 16, n. 4, p. 262, doi. 10.1159/000102147

By:

Bener, Abdulbari;
Hussain, Rafat;
Teebi, Ahmad S.

Publication type:

Article

Şaşılık Hastalarında Aile Hikayesi ve Anne Baba Akrabalığı Sıklığı Kesitsel Araştırma.

Published in:

MN Opthalmology / MN Oftalmoloji, 2023, v. 30, n. 3, p. 159

By:

BODUR, Muhiddin Fatih;
NİYAZ, Leyla

Publication type:

Article

Prenatal findings and postnatal confirmed of perlman syndrome: a case report.

Published in:

Jinekoloji-Obstetrik & Neonatoloji Tip Dergisi, 2025, v. 22, n. 1, p. 135, doi. 10.38136/jgon.1144213

By:

ŞEKER, Erdal;
ÖZIŞIK, Mehmet Seçkin;
KRAJA, Elvis;
KÖSTEKÇİ, Yasemin Ezgi;
OKULU, Emel;
KOÇ, Acar

Publication type:

Article

Interactional Dynamics in Alcohol-Complicated Marital Relationships: A Study From India.

Published in:

Marriage & Family Review, 2012, v. 48, n. 6, p. 583, doi. 10.1080/01494929.2012.691082

By:

Stanley, Selwyn

Publication type:

Article

Perceptions of Cousin Marriage Among Young Bedouin Adults in Israel.

Published in:

Marriage & Family Review, 2005, v. 37, n. 3, p. 27, doi. 10.1300/J002v37n03_03

By:

Raz, Aviad E.;
Atar, Marcela

Publication type:

Article

Impact of consanguinity on spontaneous pregnancy loss and descendants' health in north Morocco.

Published in:

Arab Gulf Journal of Scientific Research, 2024, v. 42, n. 3, p. 636, doi. 10.1108/AGJSR-01-2023-0027

By:

Hardouz, Houria;
Arfaoui, Amine;
Quyou, Ali

Publication type:

Article

The use of multiplex ARMS-PCR for mutational analysis of beta-globin gene in consanguineous population of KP Pakistan.

Published in:

Arab Gulf Journal of Scientific Research, 2024, v. 42, n. 3, p. 714, doi. 10.1108/AGJSR-01-2023-0016

By:

Ghalib, Ayesha;
Khan, Valeed;
Shams, Sumaira;
Pervaiz, Ruqiya

Publication type:

Article

The practice of consanguineous marriage and the risk of diabetes among offspring in the province of Tetouan (Morocco).

Published in:

Arab Gulf Journal of Scientific Research, 2024, v. 42, n. 1, p. 30, doi. 10.1108/AGJSR-08-2022-0134

By:

Hajjaji, Mohamed;
Khadmaoui, AbdErrazzak;
El Bakkali, Mohamed

Publication type:

Article

Clinical Characteristics and Treatment Outcome of Hereditary Spherocytosis: A Single Center's Experience.

Published in:

Medical Bulletin of Sisli Etfal Hospital, 2023, v. 57, n. 4, p. 531, doi. 10.14744/SEMB.2023.60370

By:

Celik, Senanur Sanli;
Genc, Dildar Bahar;
Yildirmak, Zeynep Yildiz

Publication type:

Article

A Novel Homozygous BMP15 Mutation Causes Ovarian Dysgenesis and Primary Amenorrhea.

Published in:

Journal of the Endocrine Society, 2025, v. 9, n. 2, p. 1, doi. 10.1210/jendso/bvae221

By:

Cohen, Amitay;
Rossetti, Raffaella;
Florsheim, Natan;
Samson, Abraham O;
Renbaum, Paul;
Carbone, Erika;
Persani, Luca;
Levy-Lahad, Ephrat;
Abu-Libdeh, Abdulsalam;
Zangen, David

Publication type:

Article

The utility of whole exome sequencing in diagnosing neurological disorders in adults from a highly consanguineous population.

Published in:

Journal of Neurogenetics, 2019, v. 33, n. 1, p. 21, doi. 10.1080/01677063.2018.1555249

By:

Mu, Weiyi;
Schiess, Nicoline;
Orthmann-Murphy, Jennifer L.;
El-Hattab, Ayman W.

Publication type:

Article

Autosomal Recessive Ataxia Caused by Three Distinct Gene Defects in a Single Consanguineous Family.

Published in:

Journal of Neurogenetics, 2008, v. 22, n. 2, p. 139, doi. 10.1080/01677060802025233

By:

Bouhlal, Yosr;
Zouari, Mourad;
Kefi, Mounir;
Hamida, Christiane Ben;
Hentati, Fayçal;
Amouri, Rim

Publication type:

Article

Multiple pterygium syndrome, Escobar variant.

Published in:

Anaesthesiologie & Intensivmedizin, 2021, v. 62, p. S183, doi. 10.19224/ai2021.S183

By:

Brooke, Jenny

Publication type:

Article