Genetic Disorders and the Fetus. Группа авторов

Чтение книги онлайн.

Читать онлайн книгу Genetic Disorders and the Fetus - Группа авторов страница 85

Genetic Disorders and the Fetus - Группа авторов

Скачать книгу

Genetic heterogeneity among kindreds with Alport syndrome. Am J Hum Genet 1986; 38:940.

      604 604. Patel RR, Hovijitra S, Kafrawy AH, et al. X‐linked (recessive) hypomaturation amelogenesis imperfecta: a prosthodontic, genetic and histopathologic report. J Prosthet Dent 1991; 66:398.

      605 605. Hennekam RC, Barth PG, van Lookeren Campagne W, et al. A family with severe X‐linked arthrogryposis. Eur J Pediatr 1991; 150:656.

      606 606. Gibbons RJ, Suthers GK, Wilkie AOM, et al. X‐linked alpha‐thalassemia/mental retardation (ATR‐X) syndrome: location to Xq12–q21.31 by X inactivation and linkage analysis. Am J Hum Genet 1992; 51:1136.

      607 607. Mathews KD, Ardinger HH, Nishimura DY, et al. Linkage localization of Borjeson–Forssman–Lehmann syndrome. Am J Med Genet 1989; 34:470.

      608 608. Karna J. Choroideremia: a clinical and genetic study of 84 Finnish patients and 126 female carriers. Acta Ophthalmol 1986; 176(Suppl):1.

      609 609. Romera MG, Martin MM, Gonzalez E. Chronic granulomatous disease: a case study of a symptomatic carrier. J Invest Allerg Clin Immunol 1997; 7:57.

      610 610. Lovas JG, Issekutz A, Walsh N, et al. Lupus erythematosus‐like oral mucosal and skin lesions in a carrier of chronic granulomatous disease. Chronic granulomatous disease carrier genodermatosis. Oral Surg Oral Med Oral Pathol Oral Rad Endod 1995; 80:78.

      611 611. Marciano BE, Zerbe CS, Falcone EL, et al. X‐linked carriers of chronic granulomatous disease: illness, lyonization, and stability. J Allergy Clin Immunol 2018; 141:365.

      612 612. Rollnick BR, Kaye CI. Mendelian inheritance of isolated nonsyndromic cleft palate. Am J Med Genet 1986; 24:465.

      613 613. Cremers CWRJ, Huygen PLM. Clinical features of female heterozygotes in the X‐linked mixed deafness syndrome (with perilymphatic gusher during stapes surgery). Int J Pediatr Otorhinolaryngol 1983; 6:179.

      614 614. Kamdar F, Garry DJ. Dystrophin‐deficient cardiomyopathy. J Am Coll Cardiol 2016; 67:2533.

      615 615. Politano L, Nigro V, Nigro G, et al. Development of cardiomyopathy in female carriers of Duchenne and Becker muscular dystrophies. JAMA 1996; 275:1335.

      616 616. Matthews PM, Benjamin D, van Bakel I, et al. Muscle X‐inactivation patterns and dystrophin expression in Duchenne muscular dystrophy carriers. Neuromuscul Disord 1995; 5:209.

      617 617. Azofeifa J, Voit T, Hubner C, et al. X‐chromosome methylation in manifesting and healthy carriers of dystrophinopathies: concordance of activation ratios among first degree female relatives and skewed inactivation as cause of the affected phenotypes. Hum Genet 1995; 96;167.

      618 618. Darras BT, Urion DK, Ghosh PS. Dystrophinopathies. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [internet]. Seattle (WA): University of Washington, Seattle, 1993–2020, September 5, 2000.

      619 619. Schnur RE, Heymann WR. Reticulate hyperpigmentation. Semin Cutan Med Surg 1997; 16:72.

      620 620. Emery AEH. Emery–Dreifuss syndrome. J Med Genet 1989; 26:637.

      621 621. Viggiano E, Madej‐Pilarczyk A, Carboni N, et al. X‐linked Emery‐Dreifuss muscular dystrophy: study of X‐chromosome inactivation and its relation with clinical phenotypes in female carriers. Genes (Basel) 2019; 10:919.

      622 622. Kong D, Zhan Y, Liu C, et al. A novel mutation of the EMD gene in a family with cardiac conduction abnormalities and a high incidence of sudden cardiac death. Pharmgenomics Pers Med 2019; 12:319.

      623 623. Ropers HH, Wienker TF, Grimm T, et al. Evidence for preferential X‐chromosome inactivation in a family with Fabry disease. Am J Hum Genet 1977; 29:361.

      624 624. Berger JR. Misdiagnosis of multiple sclerosis in a female heterozygote with Fabry's disease. Mult Scler Relat Disord 2019; 30:45.

      625 625. Thompson EM, Baraitser M, Lindenbaum RH, et al. The FG syndrome: seven new cases. Clin Genet 1985; 27:582.

      626 626. Vianna‐Morgante AM, Costa SS, Pares AS, et al. FRAXA premutation associated with premature ovarian failure. Am J Med Genet 1996; 64:373.

      627 627. Sobesky WE, Taylor AK, Pennington BF, et al. Molecular/clinical correlations in females with fragile X. Am J Med Genet 1996; 64:340.

      628 628. Franke P, Maier W, Hautzinger M, et al. Fragile‐X carrier females: evidence for a distinct psychopathological phenotype? Am J Med Genet 1996; 64:334.

      629 629. Meloni T, Forteleoni G, Dore A, et al. Neonatal hyperbilirubinaemia in heterozygous glucose‐6‐phosphate dehydrogenase deficient females. Br J Haematol 1983; 53:241.

      630 630. Mauser Bunchoten EP, van Houwelingen JC, Sjamsoedin Visser EJ, et al. Bleeding symptoms in carriers of hemophilia A and B. Thromb Haemost 1988; 59:349.

      631 631. Vabres P, Larregu M. X‐linked genodermatoses. Ann Dermatol Venereol 1995; 122:154.

      632 632. Rahbaran M, Doabsari MH, Salavitabar S, et al. A novel frameshift mutation in the EDA gene in an Iranian patient affected by X‐linked hypohidrotic ectodermal dysplasia. Call Mol Biol Lett 2019; 24:54.

      633 633. Afzal S, Ramzan K, Ullah S, et al. A novel nonsense mutation in the STS gene in a Pakistani family with X‐linked recessive ichthyosis: including a very rare case of two homozygous female patients. BMC Med Genet 2020; 21:20.

      634 634. Carmignac V, Nambot S, Lehalle D, et al. Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature. Clin Genet 2020; 98:43.

      635 635. Endres W. Inherited metabolic diseases affecting the carrier. J Inherit Metab Dis 1997; 20:9.

      636 636. Jung HH, Danek A, Walker RH, et al. McLeod neuroacanthocytosis syndrome. GeneReviews®. Seattle (WA): University of Washington, Seattle, 1993–2020, 2004 [updated 2019 May 23].

      637 637. Lorette G, Toutain A, Barthes M, et al. Menkes syndrome: an unusual pigmentation anomaly in a mother and three sisters. Ann Pediatr 1992; 39:453.

      638 638. Collie WR, Moore CM, Goka TJ, et al. Pili torti as marker for carriers of Menkes disease. Lancet 1978; 1:607.

      639 639. Bartsocas CS, Kastrantas AD. X‐linked form of myopia. Hum Hered 1981; 31:199.

      640 640. Nance WE, Warburg M, Bixler D, et al. Congenital X‐linked cataract, dental anomalies and brachymetacarpalia. Birth Defects Orig Artic Ser 1974; 10:285.

      641 641. Kellner U, Fuchs S, Bornfeld N, et al. Ocular phenotypes associated with two mutations (R121W, C126X) in the Norrie disease gene. Ophthalmol Genet 1996; 17:67.

      642 642. Charles SJ, Moore AT, Zhang Y, et al. Carrier detection in X‐linked ocular albinism using linked DNA polymorphisms. Br J Ophthalmol 1994; 78:539.

      643 643. Erpenstein H, Pfeiffer RA. Geschlechsgebunden‐dominant erbliche Zahnunterzahl. Humangenetik 1967; 4:280.

      644 644. Meroni G. X‐linked Opitz G/BBB syndrome. GeneReviews® Seattle (WA): University of Washington, Seattle, 1993–2020, 2004 [updated 2018 Apr 5].

      645 645. Herinklake S, Boker K, Manns M. Fatal clinical course of ornithine transcarbamylase deficiency in an adult heterozygous female patient. Digestion 1977; 58:83.

      646 646. Fries MH, Kuller JA, Jurecki

Скачать книгу