Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Fahed, Halal"'
Publikováno v:
Journal of dentistry for children (Chicago, Ill.). 86(1)
Pachyonychia congenita (PC) is a rare autosomal dominant condition caused by heterozygous mutation in one of five keratin genes. The purpose of this paper is to report a five-day-old infant with PC whose initial presentation revealed multiple malform
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::d451cfb9e23de887039dd3d1e5735281
https://pubmed.ncbi.nlm.nih.gov/30992103
https://pubmed.ncbi.nlm.nih.gov/30992103
Autor:
Jeffrey H. Davis, Fahed Halal, Kimberly I. Seath, Avi Saskin, Frédérique Tihy, Emmanuelle Lemyre, Linlea Armstrong
Publikováno v:
Cancer genetics.
Ewing sarcoma (ES), a common pediatric primary bone neoplasm, has a well-defined genomic landscape with various predisposing genomic elements including TP53, PMS2 and RET. Additionally, germline and somatic variants in protein tyrosine phosphatase de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4b691e68dfd99a5125b5113858504a9b
https://pubmed.ncbi.nlm.nih.gov/31072725
https://pubmed.ncbi.nlm.nih.gov/31072725
Autor:
Sarah H. Elsea, Gordon C. Gowans, Stephen R. Williams, Vazken M. Der Kaloustian, R. Ellen Magenis, Sara Zondag, Helga V. Toriello, Micheala A. Aldred, D. Ross McLeod, Fahed Halal
Publikováno v:
The American Journal of Human Genetics. 87:219-228
Brachydactyly mental retardation syndrome (BDMR) is associated with a deletion involving chromosome 2q37. BDMR presents with a range of features, including intellectual disabilities, developmental delays, behavioral abnormalities, sleep disturbance,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c482e9f8ce451b8a3339e082264dacd
https://doi.org/10.1016/j.ajhg.2010.07.011
https://doi.org/10.1016/j.ajhg.2010.07.011
Publikováno v:
American Journal of Medical Genetics. 45:1-4
We report on a boy with hyperphalangism, partial syndactyly, facial anomalies, and diffuse bronchomalacia, born to a nonconsanguineous French-Canadian couple. To our knowledge, this is a hitherto undescribed syndrome.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db49daac091fe858a2e1ae31a2bcac08
https://doi.org/10.1002/ajmg.1320450103
https://doi.org/10.1002/ajmg.1320450103
Autor:
Fahed Halal, Kenneth Silver
Publikováno v:
American Journal of Medical Genetics. 42:381-386
We report on 4 individuals (3 sibs and their father) with a syndrome of growth retardation, microcephaly, minor facial anomalies reminiscent of a mild Brachmann-de Lange syndrome (BDLS), severe metatarsus adductus, developmental delay, and unusual de
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9943478b1c126b17f9dcb03e60b4fdc2
https://doi.org/10.1002/ajmg.1320420328
https://doi.org/10.1002/ajmg.1320420328
Autor:
Fahed Halal
Publikováno v:
American Journal of Medical Genetics. 41:434-437
We report on monozygotic (MZ) twins, one with the fibular aplasia developmental field defect, and the other with ectrosyndactyly of the hand. This may represent a coincidental occurrence of two sporadic events, or syndromal fibular aplasia.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49e62cb78fa5acb7408151bc33212c70
https://doi.org/10.1002/ajmg.1320410410
https://doi.org/10.1002/ajmg.1320410410
Publikováno v:
American Journal of Medical Genetics. 39:418-421
We report on a girl with a previously undescribed de novo direct tandem duplication 4q involving the segment q23----q27. Clinical manifestations included postnatal growth and psychomotor retardation, microcephaly, hirsute forehead, epicanthic folds,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88ce95c87d33e33013ccd98080867477
https://doi.org/10.1002/ajmg.1320390412
https://doi.org/10.1002/ajmg.1320390412
Autor:
Fahed Halal, E M Azouz
Publikováno v:
American Journal of Medical Genetics. 38:588-592
We report on a boy with platyspondyly and metaphyseal manifestations of enchondromatosis with severe involvement of hands and feet, compatible with generalized enchondromatosis (enchondromatosis Spranger type VI). His father has only moderate platysp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bc4c80047376414e8183bc7c9a9fc11
https://doi.org/10.1002/ajmg.1320380418
https://doi.org/10.1002/ajmg.1320380418
Autor:
Johanne Morel, Fahed Halal
Publikováno v:
American Journal of Medical Genetics. 37:106-108
Here we report on a boy with Hirschsprung megacolon associated with microcephaly, narrow palpebral fissures, broad nasal bridge, congenital heart defect, cryptorchidism, wide-base gait, short stature, developmental delay and abnormal computed tomogra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54baf75fc51469deca1a4d038c638eea
https://doi.org/10.1002/ajmg.1320370125
https://doi.org/10.1002/ajmg.1320370125
Publikováno v:
American journal of medical genetics. 43(6)
We report on 2 sibs with generalized hypotonia, developmental retardation, unilateral radio-ulnar synostosis, and a characteristic facial appearance. We propose that they have a new autosomal recessive syndrome. © 1992 Wiley-Liss, Inc.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92f0b171bd0b6b21edd9d20f10c491bc
https://pubmed.ncbi.nlm.nih.gov/1384331
https://pubmed.ncbi.nlm.nih.gov/1384331