Works matching IS 00099163 AND DT 2021 AND VI 100 AND IP 5

Results: 18

Clinical and molecular delineation of PUS3‐associated neurodevelopmental disorders.
Published in:
Clinical Genetics, 2021, v. 100, n. 5, p. 628, doi. 10.1111/cge.14051
By:
- Nøstvik, Miriam;
- Kateta, Sarah M.;
- Schönewolf‐Greulich, Bitten;
- Afenjar, Alexandra;
- Barth, Magalie;
- Boschann, Felix;
- Doummar, Diane;
- Haack, Tobias B.;
- Keren, Boris;
- Livshits, Ludmila A.;
- Mei, Davide;
- Park, Joohyun;
- Pisano, Tiziana;
- Prouteau, Clement;
- Umair, Muhammad;
- Waqas, Ahmed;
- Ziegler, Alban;
- Guerrini, Renzo;
- Møller, Rikke S.;
- Tümer, Zeynep
Publication type:
Article
Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA‐related overgrowth spectrum.
Published in:
Clinical Genetics, 2021, v. 100, n. 5, p. 624, doi. 10.1111/cge.14047
By:
- Carli, Diana;
- Kalantari, Silvia;
- Manicone, Rosaria;
- Coppo, Paola;
- Francia di Celle, Paola;
- La Selva, Roberta;
- Santoro, Federica;
- Ranieri, Carlotta;
- Cardaropoli, Simona;
- Fagioli, Franca;
- Ferrero, Giovanni Battista;
- Resta, Nicoletta;
- Mussa, Alessandro
Publication type:
Article
Homozygous TRAPPC11 truncating variant revealing segmental uniparental disomy of chromosome 4 as a cause of a recessive limb‐girdle muscular dystrophy‐18.
Published in:
Clinical Genetics, 2021, v. 100, n. 5, p. 643, doi. 10.1111/cge.14045
By:
- Hadouiri, Nawale;
- Thomas, Quentin;
- Darmency, Véronique;
- Dulieu, Véronique;
- De Rougemont, Marie‐Gabrielle Mourot;
- Bruel, Ange‐Line;
- Duffourd, Yannis;
- Lecoquierre, François;
- Colomb, Benoit;
- Perez‐Martin, Stéphanie;
- Ornetti, Paul;
- Blanchard, Olivier;
- Sorlin, Arthur;
- Philippe, Christophe;
- Faivre, Laurence;
- Vitobello, Antonio;
- Thauvin‐Robinet, Christel
Publication type:
Article
Spectrum of neuro‐genetic disorders in the United Arab Emirates national population.
Published in:
Clinical Genetics, 2021, v. 100, n. 5, p. 573, doi. 10.1111/cge.14044
By:
- Saleh, Sirine;
- Beyyumi, Ela;
- Al Kaabi, Aysha;
- Hertecant, Jozef;
- Barakat, Doaa;
- Al Dhaheri, Noura S.;
- Al‐Gazali, Lihadh;
- Al Shamsi, Aisha
Publication type:
Article
A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion.
Published in:
Clinical Genetics, 2021, v. 100, n. 5, p. 641, doi. 10.1111/cge.14043
By:
- Musa, Noha;
- Elmonem, Mohamed A.;
- Beetz, Christian;
- Hafez, Mona;
- Hassan, Mona;
- Rolfs, Arndt;
- Selim, Laila;
- Elkhateeb, Nour
Publication type:
Article
Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms.
Published in:
Clinical Genetics, 2021, v. 100, n. 5, p. 615, doi. 10.1111/cge.14041
By:
- da Rocha, Letícia Alves;
- Pires, Lucas Vieira Lacerda;
- Yamamoto, Guilherme Lopes;
- Magliocco Ceroni, José Ricardo;
- Honjo, Rachel Sayuri;
- de Novaes França Bisneto, Edgard;
- Oliveira, Luiz Antônio Nunes;
- Rosenberg, Carla;
- Krepischi, Ana Cristina Victorino;
- Passos‐Bueno, Maria Rita;
- Kim, Chong Ae;
- Bertola, Débora Romeo
Publication type:
Article
Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.
Published in:
Clinical Genetics, 2021, v. 100, n. 5, p. 563, doi. 10.1111/cge.14040
By:
- D'Amico, Alessandra;
- Rosano, Carmen;
- Pannone, Luca;
- Pinna, Valentina;
- Assunto, Antonia;
- Motta, Marialetizia;
- Ugga, Lorenzo;
- Daniele, Paola;
- Mandile, Roberta;
- Mariniello, Lucio;
- Siano, Maria Anna;
- Santoro, Claudia;
- Piluso, Giulio;
- Martinelli, Simone;
- Strisciuglio, Pietro;
- De Luca, Alessandro;
- Tartaglia, Marco;
- Melis, Daniela
Publication type:
Article
Delineating the expanding phenotype of HERC2‐related disorders: The impact of biallelic loss of function versus missense variation.
Published in:
Clinical Genetics, 2021, v. 100, n. 5, p. 637, doi. 10.1111/cge.14039
By:
- Vincent, Krista M.;
- Eaton, Alison;
- Yassaee, Vahid Reza;
- Miryounesi, Mohammad;
- Hashemi‐Gorji, Feyzollah;
- Rudichuk, Lauren;
- Goez, Helly;
- Leonard, Norma;
- Lazier, Joanna
Publication type:
Article
Whole genome sequencing identifies rare germline variants enriched in cancer related genes in first degree relatives of familial pancreatic cancer patients.
Published in:
Clinical Genetics, 2021, v. 100, n. 5, p. 551, doi. 10.1111/cge.14038
By:
- Tan, Ming;
- Brusgaard, Klaus;
- Gerdes, Anne‐Marie;
- Mortensen, Michael Bau;
- Detlefsen, Sönke;
- Schaffalitzky de Muckadell, Ove B.;
- Joergensen, Maiken Thyregod
Publication type:
Article
Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities.
Published in:
Clinical Genetics, 2021, v. 100, n. 5, p. 542, doi. 10.1111/cge.14037
By:
- Kaur, Parneet;
- do Rosario, Michelle C;
- Hebbar, Malavika;
- Sharma, Suvasini;
- Kausthubham, Neethukrishna;
- Nair, Karthik;
- A, Shrikiran;
- Bhat Y, Ramesh;
- Lewis, Leslie Edward S;
- Nampoothiri, Sheela;
- Patil, Siddaramappa J;
- Suresh, Narayanaswami;
- Bijarnia Mahay, Sunita;
- Dua Puri, Ratna;
- Pai, Shivanand;
- Kaur, Anupriya;
- KC, Rakshith;
- Kamath, Nutan;
- Bajaj, Shruti;
- Kumble, Ali
Publication type:
Article
Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.
Published in:
Clinical Genetics, 2021, v. 100, n. 5, p. 529, doi. 10.1111/cge.14036
By:
- Di Taranto, Maria Donata;
- Giacobbe, Carola;
- Palma, Daniela;
- Iannuzzo, Gabriella;
- Gentile, Marco;
- Calcaterra, Ilenia;
- Guardamagna, Ornella;
- Auricchio, Renata;
- Di Minno, Matteo Nicola Dario;
- Fortunato, Giuliana
Publication type:
Article
A new synonymous variant involving an mRNA splicing site in CYP21A2 detected in 12 unrelated patients with deficiency of 21‐hydroxylase.
Published in:
Clinical Genetics, 2021, v. 100, n. 5, p. 634, doi. 10.1111/cge.14035
By:
- Arriba, María;
- Oriola, Josep;
- Ezquieta, Begoña
Publication type:
Article
Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI‐anchored proteins.
Published in:
Clinical Genetics, 2021, v. 100, n. 5, p. 607, doi. 10.1111/cge.14033
By:
- Salian, Smrithi;
- Scala, Marcello;
- Nguyen, Thi Tuyet Mai;
- Severino, Mariasavina;
- Accogli, Andrea;
- Amadori, Elisabetta;
- Torella, Annalaura;
- Pinelli, Michele;
- Hudson, Beth;
- Boothe, Megan;
- Hurst, Anna;
- Ben‐Omran, Tawfeg;
- Larsen, Martin J.;
- Fagerberg, Christina R.;
- Sperling, Lene;
- Miceikaite, Ieva;
- Herissant, Lucas;
- Doco‐Fenzy, Martine;
- Jennesson, Mélanie;
- Nigro, Vincenzo
Publication type:
Article
The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes.
Published in:
Clinical Genetics, 2021, v. 100, n. 5, p. 522, doi. 10.1111/cge.14032
By:
- Khayat, Morad;
- Danial‐Farran, Nada;
- Chervinsky, Elena;
- Zehavi, Yoav;
- Peled‐Peretz, Lilach;
- Gafni‐Amsalem, Chen;
- Hakrosh, Shadia;
- Abu‐Leil Zouabi, Olfat;
- Tamir, Liron;
- Mamlouk, Efrat;
- Zlotogora, Joël;
- Shalev, Stavit A.
Publication type:
Article
Short stature with low insulin‐like growth factor 1 availability due to pregnancy‐associated plasma protein A2 deficiency in a Saudi family.
Published in:
Clinical Genetics, 2021, v. 100, n. 5, p. 601, doi. 10.1111/cge.14030
By:
- Babiker, Amir;
- Al Noaim, Khalid;
- Al Swaid, Abdulrahman;
- Alfadhel, Majid;
- Deeb, Asma;
- Martín‐Rivada, Álvaro;
- Barrios, Vicente;
- Pérez‐Jurado, Luis A.;
- Alfares, Ahmed;
- Al Alwan, Ibrahim;
- Argente, Jesús
Publication type:
Article
Out‐of‐pocket and private pay in clinical genetic testing: A scoping review.
Published in:
Clinical Genetics, 2021, v. 100, n. 5, p. 504, doi. 10.1111/cge.14006
By:
- Grant, Peter;
- Langlois, Sylvie;
- Lynd, Larry D.;
- Austin, Jehannine C.;
- Elliott, Alison M.
Publication type:
Article
Lysosomal storage disorders as an etiology of nonimmune hydrops fetalis: A systematic review.
Published in:
Clinical Genetics, 2021, v. 100, n. 5, p. 493, doi. 10.1111/cge.14005
By:
- Iyer, Neel S.;
- Gimovsky, Alexis C.;
- Ferreira, Carlos R.;
- Critchlow, Elizabeth;
- Al‐Kouatly, Huda B.
Publication type:
Article
Issue Information.
Published in:
Clinical Genetics, 2021, v. 100, n. 5, p. 491, doi. 10.1111/cge.13787
Publication type:
Article