(Q33930456)

30 July 2017

title

Variability in the phenotypic expression of fryns syndrome: A report of two sibships (English)

1 reference

30 July 2017

1 reference

Ramsing M

1

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30 July 2017

Gillessen-Kaesbach G

2

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30 July 2017

Holzgreve W

3

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30 July 2017

Fritz B

4

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30 July 2017

Rehder H

5

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30 July 2017

publication date

1 December 2000

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American Journal of Medical Genetics Part A

30 July 2017

published in

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30 July 2017

volume

95

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30 July 2017

issue

5

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30 July 2017

page(s)

415-424

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Fryns syndrome: report on 8 new cases

30 July 2017

cites work

1 reference

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Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome

21 January 2018

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Fryns syndrome: two further cases without lateral diaphragmatic defects.

21 January 2018

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Apparent Fryns syndrome in a boy with a tandem duplication of 1q24-31.2.

21 January 2018

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Neural tube defects in chromosomally normal and abnormal human embryos

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Myocardial enlargement in defective heart development.

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Apparent Fryns' syndrome and aneuploidy: evidence for a disturbance of the midline developmental field

21 January 2018

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Ring chromosome 15 in a patient with features of Fryns' syndrome

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Familial cryptic translocation with del 4q34-->qter and dup 12pter-->p13 in sibs with tracheal stenosis: clinical, classical and molecular cytogenetic studies and CGH analyses from archival placental tissues evidencing tertiary trisomy 4 in one abor

21 January 2018

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Fryns syndrome: a variable MCA syndrome with diaphragmatic defects, coarse face, and distal limb hypoplasia

21 January 2018

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A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities

21 January 2018

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Migration of cranial neural crest cells to the pharyngeal arches and heart in rat embryos

21 January 2018

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Deciphering the Hox code: Clues to patterning branchial regions of the head

21 January 2018

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Hox codes and positional specification in vertebrate embryonic axes

21 January 2018

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Role of neural crest in congenital heart disease

21 January 2018

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Backtransplantation of chick cardiac neural crest cells cultured in LIF rescues heart development

21 January 2018

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Terminal deletion of 6q and Fryns syndrome: a microdeletion/syndrome pair?

21 January 2018

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Fryns syndrome: a new variable multiple congenital anomaly (MCA) syndrome

21 January 2018

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Congenital malformations and the neural crest

21 January 2018

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Pallister-Killian and Fryns syndromes: nosology

21 January 2018

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The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance

21 January 2018

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Severe developmental failure with coarse facialfeatures, distal limb hypoplasia, thickened palmar creases, bifid uvula, and ureteral stenosis: A previously unidentified familial disorder with lethal outcome

21 January 2018

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Fryns syndrome in a girl born to consanguineous parents

21 January 2018

1 reference

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Fryns syndrome survivors and neurologic outcome

21 January 2018

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Coloboma and microphthalmos in chromosomal aberrations. Chromosomal aberrations and neural crest cell developmental field

21 January 2018

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Two fetuses with Fryns syndrome without diaphragmatic defects

21 January 2018

1 reference

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Fryns syndrome without diaphragmatic hernia?

21 January 2018

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21 January 2018

A case of Fryns syndrome

1 reference

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Cystic hygroma and congenital diaphragmatic hernia: early prenatal sonographic evaluation of Fryns' syndrome

21 January 2018

1 reference

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Cardiac defects in chromosomally abnormal human embryos of 10-14 weeks' gestation

21 January 2018

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21 January 2018

1 reference

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Nuchal cysts syndromes: etiology, pathogenesis, and prenatal diagnosis

21 January 2018

1 reference

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Cystic hygroma as an early first-trimester ultrasound marker for recurrent Fryns' syndrome

21 January 2018

1 reference

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Experimental study on embryogenesis of congenital diaphragmatic hernia

21 January 2018

1 reference

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Fryns syndrome phenotype and trisomy 22

21 January 2018

1 reference

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Congenital diaphragmatic hernia associated with homolateral upper limb malformation: A study of possible pathogenesis in four cases

21 January 2018

1 reference

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Cleft lip and palate, characteristic facial appearance, malrotation of the intestine, and lethal congenital heart disease in two sibs: a new autosomal recessive condition?

21 January 2018

1 reference

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Microdeletion 22q11 in complex cardiovascular malformations

21 January 2018

1 reference

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Pathogenesis of persistent truncus arteriosus and dextroposed aorta in the chick embryo after neural crest ablation

21 January 2018

1 reference

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CNS anomalies and the midline as a "developmental field"

21 January 2018

1 reference

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Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn.

21 January 2018

1 reference

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21 January 2018

1 reference

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Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis

21 January 2018

1 reference

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Use of three-dimensional ultrasound to establish the prenatal diagnosis of Fryns syndrome

21 January 2018

1 reference

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Cardiac neural crest contribution to the pulmonary artery and sixth aortic arch artery complex in chick embryos aged 6 to 18 days

21 January 2018

1 reference

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10.1002/1096-8628(20001218)95:5<415::AID-AJMG2>3.0.CO;2-J

21 January 2018

Identifiers

DOI

1 reference

30 July 2017

1 reference