Fetal cardiac anomalies and genetic syndromes
暂无分享,去创建一个
H. Firth | L. Chitty | E. Pajkrt | Boaz Weisz | Lyn S. Chitty | Eva Pajkrt | Helen V. Firth | B. Weisz
[1] T. Tongsong,et al. Prenatal diagnosis of thrombocytopenia‐absent‐radius (TAR) syndrome , 2000, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.
[2] J. Seidman,et al. Erratum: Mutations in human TBX5 cause limb and cardiac malformation in Holt-Oram syndrome , 1997, Nature Genetics.
[3] J. W. Wladimiroff,et al. Early transvaginal ultrasonographic diagnosis of Beemer‐Langer dysplasia: a report of two cases , 1998, Ultrasound in Obstetrics and Gynecology.
[4] Sahar Mansour,et al. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene , 1994, Nature.
[5] A. Lin,et al. Cardiovascular malformations in Smith-Lemli-Opitz syndrome. , 1997, American journal of medical genetics.
[6] H. Gross,et al. [Congenital hypoplastic thrombopenia with aplasia of the radius, a syndrome of multiple variations]. , 1956, Neue osterreichische Zeitschrift fur Kinderheilkunde.
[7] L. Chitty,et al. Edematous polydactyly in Smith‐Lemli–Opitz syndrome Type II , 2004, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.
[8] C. Lange. CONGENITAL HYPERTROPHY OF THE MUSCLES, EXTRAPYRAMIDAL MOTOR DISTURBANCES AND MENTAL DEFICIENCY: A CLINICAL ENTITY , 1934 .
[9] A. Mehta,et al. Occurrence of congenital heart disease in children with Brachmann-de Lange syndrome. , 1997, American journal of medical genetics.
[10] G. Taylor,et al. Holt-Oram syndrome. , 1979, The Journal of pediatrics.
[11] T. Tongsong,et al. Prenatal sonographic diagnosis of Holt‐Oram syndrome , 2000, Journal of clinical ultrasound : JCU.
[12] V. McKusick,et al. DWARFISM IN THE AMISH. , 1964, Transactions of the Association of American Physicians.
[13] J. Attwood,et al. Two loci for Tuberous Sclerosis: one on 9q34 and one on 16p13 , 1994, Annals of human genetics.
[14] Ivemark Bi. Implications of agenesis of the spleen on the pathogenesis of conotruncus anomalies in childhood; an analysis of the heart malformations in the splenic agenesis syndrome, with fourteen new cases. , 1955 .
[15] K. Nicolaides,et al. Increased first trimester nuchal translucency as a prenatal manifestation of Smith-Lemli-Opitz syndrome. , 1995, American journal of medical genetics.
[16] M. Borkenstein,et al. Prenatal diagnosis of campomelic dysplasia by ultrasonography , 1985, Prenatal diagnosis.
[17] B. Kousseff,et al. Brachmann–de Lange Syndrome: 1994 Update , 1994 .
[18] Tom Strachan,et al. NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome , 2004, Nature Genetics.
[19] R. Kaufman. BIRTH DEFECTS AND ORAL CONTRACEPTIVES , 1973, Lancet.
[20] C. Kozma. Valproic acid embryopathy: report of two siblings with further expansion of the phenotypic abnormalities and a review of the literature. , 2001, American journal of medical genetics.
[21] David W. Smith,et al. The VATER association , 1973 .
[22] S. Oram,et al. FAMILIAL HEART DISEASE WITH SKELETAL MALFORMATIONS , 1960, British heart journal.
[23] N. J. Sissman,et al. Congenital heart disease in the de Lange syndrome. , 1971, The Journal of pediatrics.
[24] E. Roitman,et al. Midgestational maternal urine steroid markers of fetal Smith–Lemli–Opitz (SLO) syndrome (7-dehydrocholesterol 7-reductase deficiency) , 1999, Steroids.
[25] J. Grudzinskas,et al. Pregnancy‐associated plasma protein A: A possible marker in the classification and prenatal diagnosis of Cornelia de Lange syndrome , 1983, Prenatal diagnosis.
[26] D. Driscoll. Prenatal diagnosis of the 22q11.2 deletion syndrome , 2001, Genetics in Medicine.
[27] M. Patton,et al. Cardiologic Abnormalities in Noonan Syndrome: Phenotypic Diagnosis and Echocardiographic Assessment of 118 Patients , 1993, Journal of the American College of Cardiology.
[28] M. Digilio,et al. Anatomic patterns of conotruncal defects associated with deletion 22q11 , 2001, Genetics in Medicine.
[29] L. Jackson,et al. de Lange syndrome: a clinical review of 310 individuals. , 1993, American journal of medical genetics.
[30] J L Michel,et al. CHARGE syndrome: report of 47 cases and review. , 1998, American journal of medical genetics.
[31] Michael A. Patton,et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome , 2001, Nature Genetics.
[32] G. Filippi. The de Lange syndrome. Report of 15 cases , 1989, Clinical genetics.
[33] D. Weaver,et al. The VATER Association: Analysis of 46 Patients , 1986 .
[34] H. Sekimoto,et al. Prenatal findings in Brachmann-de Lange syndrome , 2000, Archives of Gynecology and Obstetrics.
[35] A. Offiah,et al. The phenotype of survivors of campomelic dysplasia , 2002, Journal of medical genetics.
[36] H. Brunner,et al. Thrombocytopenia-absent radius syndrome: a clinical genetic study , 2002, Journal of medical genetics.
[37] J. Berg,et al. The De Lange syndrome , 1970 .
[38] H. V. van Geijn,et al. Prenatal ultrasound diagnosis of the Holt‐Oram syndrome , 1988, Prenatal diagnosis.
[39] V. McKusick,et al. THROMBOCYTOPENIA WITH ABSENT RADIUS (TAR) , 1969, Medicine.
[40] Han G Brunner,et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome , 2004, Nature Genetics.
[41] N. Tommerup,et al. Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9 , 1994, Cell.
[42] A. Rosenthal,et al. Congenital heart disease in de Lange's syndrome. , 1977, Southern medical journal (Birmingham, Ala. Print).
[43] R M Winter,et al. The London Dysmorphology Database. , 1987, Journal of medical genetics.
[44] I. Krantz,et al. Dominant paternal transmission of Cornelia de Lange syndrome: a new case and review of 25 previously reported familial recurrences. , 2001, American journal of medical genetics.
[45] N. Niikawa,et al. Familial clustering of situs inversus totalis, and asplenia and polysplenia syndromes. , 1983, American journal of medical genetics.
[46] J. Goodship,et al. Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. , 2003, American journal of human genetics.
[47] R. Ellis,et al. A Syndrome Characterized by Ectodermal Dysplasia, Polydactyly, Chondro-Dysplasia and Congenital Morbus Cordis , 1940, Archives of disease in childhood.
[48] L. Chameides,et al. Evolution of Cardiac Rhabdomyoma in Tuberous Sclerosis Complex , 1996, Clinical pediatrics.
[49] A. Moser,et al. Clinical and biochemical spectrum of patients with RSH/Smith-Lemli-Opitz syndrome and abnormal cholesterol metabolism. , 1997, American journal of medical genetics.
[50] J. Hartung,et al. Ultrasonographic and clinical appearance of a 22-week-old fetus with Brachmann-de Lange syndrome. , 2001, American journal of medical genetics.
[51] P. Vaast,et al. Brachmann-de Lange syndrome: pre- and postnatal findings. , 1996, American journal of medical genetics.
[52] M. Weinstein,et al. Cardiovascular Malformations with Lithium Use During Pregnancy , 1975 .
[53] M. Super,et al. Cardiac rhabdomyomata in tuberous sclerosis: their course and diagnostic value. , 1989, Archives of disease in childhood.
[54] Lorenzo D Botto,et al. A population-based study of the 22q11.2 deletion: phenotype, incidence, and contribution to major birth defects in the population. , 2003, Pediatrics.
[55] J. Opitz,et al. Sixty-four patients with Brachmann-de Lange syndrome: a survey. , 1985, American journal of medical genetics.
[56] R. Frydman,et al. Antenatal thrombocytopenia in three patients with TAR (thrombocytopenia with absent radii) syndrome , 1993, Prenatal diagnosis.
[57] P. Vreken,et al. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. , 1998, American journal of human genetics.
[58] D. Vinatier,et al. Prenatal diagnosis of thrombocytopenia-absent radius syndrome. , 1996, Fetal diagnosis and therapy.
[59] C. Gillberg,et al. Tuberous sclerosis in Western Sweden. A population study of cases with early childhood onset. , 1994, Archives of neurology.
[60] S. Temtamy,et al. Extending the scope of the VATER association: definition of the VATER syndrome. , 1974, The Journal of pediatrics.
[61] J. Fryns,et al. Prenatal diagnosis of campomelic dwarfism , 1981, Clinical genetics.
[62] J. Opitz,et al. Noonan syndrome: a review. , 1985, American journal of medical genetics.
[63] D. Raveh,et al. Poor prenatal detection rate of cardiac anomalies in Noonan syndrome , 2002, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.
[64] A. Read,et al. Consanguinity and complex cardiac anomalies with situs ambiguus. , 1984, Archives of disease in childhood.
[65] J. W. Foster,et al. Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. , 1995, American journal of human genetics.
[66] David I. Wilson,et al. Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family , 1997, Nature Genetics.
[67] M. Porto,et al. Abnormal First‐Trimester Fetal Nuchal Translucency and Cornelia de Lange Syndrome , 2002, Obstetrics and gynecology.
[68] E. Garne,et al. Evaluation of prenatal diagnosis of associated congenital heart diseases by fetal ultrasonographic examination in Europe , 2001, Prenatal diagnosis.
[69] L. Chitty,et al. Smith–Lemli–Opitz syndrome presenting with persisting nuchal oedema and non‐immune hydrops , 1999, Prenatal diagnosis.
[70] R. Kucherlapati,et al. Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome , 1997, Nature Genetics.
[71] J. Opitz,et al. The Noonan syndrome. , 1985, American journal of medical genetics.
[72] M. Pembrey,et al. A clinical and genetic study of campomelic dysplasia. , 1995, Journal of medical genetics.
[73] M. Burch,et al. A clinical study of Noonan syndrome. , 1992, Archives of disease in childhood.
[74] P. Scambler. The 22q11 deletion syndromes. , 2000, Human molecular genetics.
[75] J. Burn,et al. Second‐trimester pregnancy associated plasma protein‐A levels are reduced in Cornelia de Lange syndrome pregnancies , 1999, Prenatal diagnosis.
[76] J. Graham,et al. Radiological features in Brachmann-de Lange syndrome. , 1993, American journal of medical genetics.
[77] C. Stoll,et al. Prenatal diagnosis of dysmorphic syndromes by routine fetal ultrasound examination across Europe , 2003, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.
[78] M. Pierpont,et al. Variation in severity of cardiac disease in Holt-Oram syndrome. , 1996, American journal of medical genetics.
[79] J. Opitz,et al. BRACHMANN/DE LANGE SYNDROME. , 1964, Lancet.
[80] M. Bialer,et al. Prenatal evaluation and in utero platelet transfusion for thrombocytopenia absent radii syndrome , 1994, Prenatal diagnosis.
[81] F. Mosca,et al. Natural history and long‐term outcome of cardiac rhabdomyomas detected prenatally , 2004, Prenatal diagnosis.
[82] J. Moller,et al. Congenital cardiac, pulmonary, and vascular malformations in oculoauriculovertebral dysplasia , 1982, Pediatric Cardiology.
[83] C. Wilson,et al. FENFLURAMINE AND DREAMING , 1974 .
[84] J. Nora,et al. A syndrome of multiple congenital anomalies associated with teratogenic exposure. , 1975, Archives of Environmental Health An International Journal.
[85] L. de Catte,et al. Early prenatal diagnosis of oculoauriculovertebral dysplasia or the Goldenhar syndrome , 1996, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.
[86] A. Baschat,et al. Prenatal diagnosis of cardiosplenic syndromes: a 10‐year experience , 2003, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.
[87] L. Hill,et al. Transvaginal sonographic diagnosis of short‐rib polydactyly dysplasia at 13 weeks' gestation , 1998, Prenatal diagnosis.
[88] Prospective multicentre study of pregnancy outcome after lithium exposure during first trimester , 1992, The Lancet.
[89] B. Källén,et al. CHARGE Association in newborns: a registry-based study. , 1999, Teratology.
[90] M. Shakudo,et al. CT and MR imaging of cerebral tuberous sclerosis , 1998, Brain and Development.
[91] P. Turnpenny,et al. A clinical study of 57 children with fetal anticonvulsant syndromes , 2000 .
[92] L. Chitty,et al. Prenatal features of Noonan syndrome , 1999, Prenatal diagnosis.
[93] B. Ivemark. Implications of Agenesis of the Spleen on the Pathogenesis of Conotruncus Anomalies in Childhood , 1955, Acta paediatrica. Supplementum.
[94] J. Bowie,et al. Fetal biometry in the Brachmann-de Lange syndrome. , 1993, American journal of medical genetics.
[95] D. Krantz,et al. Low first‐trimester pregnancy‐associated plasma protein‐A and Cornelia de Lange syndrome , 2003, Prenatal diagnosis.
[96] G. Machin. Hydrops revisited: literature review of 1,414 cases published in the 1980s. , 1989, American journal of medical genetics.
[97] Harold Kalter,et al. Teratology in the 20th century: environmental causes of congenital malformations in humans and how they were established. , 2003, Neurotoxicology and teratology.
[98] B. Thilaganathan,et al. Improving the effectiveness of routine prenatal screening for major congenital heart defects , 2002, Heart.
[99] E. Lavi,et al. Prenatal diagnosis of thrombocytopenia absent radius syndrome by ultrasound and cordocentesis , 1990, Prenatal diagnosis.
[100] R. Pagon,et al. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. , 1981, The Journal of pediatrics.
[101] S. Shaw,et al. Congenital hypoplastic thrombocytopenia with skeletal deformaties in siblings. , 1959, Blood.
[102] D. Weaver,et al. Oculo‐auriculo-vertebral spectrum and the CHARGE association: clinical evidence for a common pathogenetic mechanism , 1996, Clinical dysmorphology.
[103] S. Jóźwiak,et al. Cardiac tumours in tuberous sclerosis: Their incidence and course , 1994, European Journal of Pediatrics.
[104] F. L. Giknis. Single atrium and the Ellis-van Creveld syndrome. , 1963, The Journal of pediatrics.
[105] J. Hall. Thrombocytopenia and absent radius (TAR) syndrome. , 1987, Journal of medical genetics.
[106] D. S. Lin,et al. Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. , 1998, American journal of human genetics.
[107] M. Digilio,et al. Cardiac malformations in patients with oral-facial-skeletal syndromes: clinical similarities with heterotaxia. , 1999, American journal of medical genetics.
[108] S. Solomon,et al. The clinical and genetic spectrum of the Holt-Oram syndrome (heart-hand syndrome) , 1994, The New England journal of medicine.
[109] J. Weber,et al. Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease , 1992, Nature genetics.
[110] K. Zerres,et al. Overlap between VACTERL and hemifacial microsomia illustrating a spectrum of malformations seen in axial mesodermal dysplasia complex (AMDC) , 2003, American journal of medical genetics. Part A.
[111] R. K. Miller,et al. Update on new developments in the study of human teratogens. , 2002, Teratology.
[112] J. Nora,et al. Letter: Lithium, Ebstein's anomaly, and other congenital heart defects. , 1974, Lancet.
[113] R. Newbury-Ecob,et al. Holt-Oram syndrome: a clinical genetic study. , 1996, Journal of medical genetics.
[114] H. Lindberg,et al. Outcome of congenital heart defects–a population‐based study , 2000, Acta paediatrica.
[115] H. Kay,et al. Prenatal diagnosis of thrombocytopenia absent radius (TAR) syndrome and vaginal delivery , 1999, Prenatal diagnosis.
[116] V. McKusick,et al. DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME. , 1964, Bulletin of the Johns Hopkins Hospital.
[117] J. Osborne,et al. The value of investigation for genetic counselling in tuberous sclerosis. , 1990, Journal of medical genetics.
[118] P. Clayton. Disorders of cholesterol biosynthesis , 1998, Archives of disease in childhood.
[119] J. Seidman,et al. Chamber-specific cardiac expression of Tbx5 and heart defects in Holt-Oram syndrome. , 1999, Developmental biology.
[120] M. Martinez-frias,et al. VACTERL as primary, polytopic developmental field defects. , 1999, American journal of medical genetics.
[121] L. Chitty,et al. Prenatal gender determination and the diagnosis of genital anomalies , 2004, BJU international.
[122] R. Kelley,et al. Prenatal diagnosis of the RSH/Smith-Lemli-Opitz syndrome. , 1999, American journal of medical genetics.
[123] P. Tomà,et al. In utero ultrasonographic features of campomelic dysplasia , 1989, Prenatal diagnosis.
[124] J. Hurst,et al. The Holt-Oram syndrome. , 1991, Journal of medical genetics.
[125] A. Rein,et al. Rhabdomyoma in the Fetus: Illustration of Tumor Growth During the Second Half of Gestation , 2001, Pediatric Cardiology.
[126] J. Lipton,et al. Thrombocytopenia with absent radii. A review of 100 cases. , 1988, The American journal of pediatric hematology/oncology.
[127] I. Krantz,et al. Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B , 2004, Nature Genetics.