Preimplantation genetic diagnosis (PGD) - Prevention of the birth of children affected with endocrine diseases

Journal of Pediatric Endocrinology and Metabolism

Volumn 24, Issue 7-8, 2011, Pages 543-548

  Altarescu, Gheona ^a,c   Barenholz, Orit ^b   Renbaum, Paul ^a   Beeri, Rachel ^a   Levy Lahad, Ephrat ^a,c   Margalioth, Ehud J ^b   Brooks, Baruch ^b   Varshaver, Irit ^b   Eldar Geva, Talia ^b,c  

^a Medical Genetics Institute   (Israel)

^b SHAARE ZEDEK MEDICAL CENTER   (Israel)

^c HEBREW UNIVERSITY   (Israel)

Author keywords

congenital adrenal hyperplasia; multiple endocrine neoplasia 2A; persistent hyperinsulinemic hypoglycemia of infancy; preimplantation genetic diagnosis; Sanjat Sakati syndrome

Indexed keywords

ESTROFEM; PROGESTERONE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLASTOMERE; CHILDBIRTH; CONGENITAL ADRENAL HYPERPLASIA; CONTROLLED OVARIAN STIMULATION; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; EMBRYO; EMBRYO TRANSFER; ENDOCRINE DISEASE; FEMALE; FERTILIZATION IN VITRO; GENE DELETION; GENE MUTATION; GENETIC SCREENING; HETEROZYGOTE; HUMAN; HYPOPARATHYROIDISM; INFERTILITY; INFERTILITY THERAPY; MALE; MICROSATELLITE MARKER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCHAL TRANSLUCENCY MEASUREMENT; OOCYTE RETRIEVAL; PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; SANJAT SAKATI SYNDROME SALT WASTING FORM; SIPPLE SYNDROME; SPLICING DEFECT; TREATMENT OUTCOME; TWINS; WILD TYPE;

ABNORMALITIES, MULTIPLE; ADRENAL HYPERPLASIA, CONGENITAL; ADULT; BONE DISEASES, DEVELOPMENTAL; EMBRYO TRANSFER; ENDOCRINE SYSTEM DISEASES; FAMILY HEALTH; FEMALE; GENETIC MARKERS; GROWTH DISORDERS; HUMANS; HYPOPARATHYROIDISM; ISRAEL; MALE; MENTAL RETARDATION; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; NESIDIOBLASTOSIS; OSTEOCHONDRODYSPLASIAS; PANCREATIC DISEASES; PREGNANCY; PREGNANCY OUTCOME; PREIMPLANTATION DIAGNOSIS; SEIZURES;

EID: 80051965425     PISSN: 0334018X     EISSN: 21910251     Source Type: Journal    
DOI: 10.1515/JPEM.2011.262     Document Type: Article

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