1 |
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
6
56
61
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Tan-Sindhunata MB...Groffen AJ
|
25537362 |
2015 |
2 |
MuSK: a new target for lethal fetal akinesia deformation sequence (FADS).
61
6
56
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Wilbe M...Bondeson ML
|
25612909 |
2015 |
3 |
CHRNG genotype-phenotype correlations in the multiple pterygium syndromes.
61
56
|
Vogt J...Maher ER
|
22167768 |
2012 |
4 |
Germline mutation in DOK7 associated with fetal akinesia deformation sequence.
56
61
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Vogt J...Maher ER
|
19261599 |
2009 |
5 |
Prenatal sonographic diagnosis of Pena-Shokeir syndrome type I, or fetal akinesia deformation sequence.
56
61
|
Ohlsson A...Moore DC
|
3278614 |
1988 |
6 |
Fetal akinesia deformation sequence in previable fetuses.
61
56
|
Davis JE...Kalousek DK
|
3344777 |
1988 |
7 |
Pre- and postnatal findings in Pena Shokeir I syndrome: case report and a review of the literature.
56
61
|
Katzenstein M...Goodman RM
|
3053754 |
1988 |
8 |
The heterogeneity of the Pena-Shokeir syndrome.
56
61
|
Hageman G...Lindhout D
|
3561707 |
1987 |
9 |
Fetal akinesia deformation sequence: an animal model.
61
56
|
Moessinger AC
|
6685864 |
1983 |
10 |
Asymptomatic maternal myasthenia as a cause of the Pena-Shokeir phenotype.
56
|
Brueton LA...Vincent A
|
10797415 |
2000 |
11 |
Plasma from human mothers of fetuses with severe arthrogryposis multiplex congenita causes deformities in mice.
56
|
Jacobson L...Vincent A
|
10194476 |
1999 |
12 |
Association of arthrogryposis multiplex congenita with maternal antibodies inhibiting fetal acetylcholine receptor function.
56
|
Riemersma S...Newsom-Davis J
|
8941654 |
1996 |
13 |
The receptor tyrosine kinase MuSK is required for neuromuscular junction formation in vivo.
56
|
DeChiara TM...Yancopoulos GD
|
8653786 |
1996 |
14 |
Arthrogryposis multiplex congenita with maternal autoantibodies specific for a fetal antigen.
56
|
Vincent A...Newsom-Davis J
|
7603140 |
1995 |
15 |
Fetal akinesia and multiple perinatal fractures.
56
|
Chen H...Wertelecki W
|
7762589 |
1995 |
16 |
Development of innervation of skeletal muscle fibers in man: relation to acetylcholine receptors.
56
|
Hesselmans LF...Vincent A
|
8363059 |
1993 |
17 |
Lethal Pena-Shokeir 1 syndrome in three male siblings.
56
|
Gyr T...Schneider H
|
1605680 |
1992 |
18 |
Pena-Shokeir phenotype with major CNS-malformations: clinicopathological report of two siblings.
56
|
Erdl R...Schramm T
|
2670346 |
1989 |
19 |
Pena-Shokeir phenotype in sibs with macrocephaly but without growth retardation.
56
|
Lammer EJ...Holmes LB
|
2672815 |
1989 |
20 |
Pathologic features in two siblings with the Pena-Shokeir I syndrome.
56
|
Bisceglia M...Dallapiccola B
|
3595647 |
1987 |
21 |
Prenatal ultrasonographic features of the Pena-Shokeir I syndrome and the trisomy 18 syndrome.
56
|
Muller LM...de Jong G
|
3541607 |
1986 |
22 |
Analysis of Pena Shokeir phenotype.
56
|
Hall JG
|
3541610 |
1986 |
23 |
The Pena-Shokeir syndrome: report of nine Dutch cases.
56
|
Lindhout D...Willemse J
|
3895932 |
1985 |
24 |
Sibs with the fetal akinesia sequence, fetal edema, and malformations: a new syndrome?
56
|
Toriello HV...Higgins JV
|
4040328 |
1985 |
25 |
Prenatal diagnosis of Pena-Shokeir syndrome type 1.
56
|
MacMillan RH...Kelly TE
|
3893126 |
1985 |
26 |
The Pena-Shokeir syndrome: report of five cases and further delineation of the syndrome.
56
|
Chen H...Beemer FA
|
6650566 |
1983 |
27 |
Multiple ankyloses, facial anomalies, and pulmonary hypoplasia associated with severe antenatal spinal muscular atrophy.
56
|
Moerman P...Lauweryns JM
|
6875715 |
1983 |
28 |
Limb pterygium syndromes: a review and report of eleven patients.
56
|
Hall JG...Wilson KM
|
7124793 |
1982 |
29 |
Separating Pena-Shokeir I syndrome from the "arthrogryposis basket".
56
|
Houston CS...Shokeir MH
|
7328099 |
1981 |
30 |
Multiple pterygium syndrome.
56
|
Chen H...Opitz JM
|
7468651 |
1980 |
31 |
Pulmonary hypoplasia, multiple ankyloses, and camptodactyly: one syndrome or some related forms?
56
|
Lazjuk GI...Nedzved MK
|
669973 |
1978 |
32 |
Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary hypoplasia: a lethal condition.
56
|
Pena SD...Shokeir MH
|
4431498 |
1974 |
33 |
Syndrome of ankylosis, facial anomalies, and pulmonary hypoplasia.
56
|
Punnett HH...Ellison RT
|
4154411 |
1974 |
34 |
Experimental clubfoot and arthrogryposis multiplex congenita.
56
|
DRACHMAN DB...COULOMBRE AJ
|
13887680 |
1962 |
35 |
Prenatal sonographic diagnosis of Dandy-Walker malformation and type III lissencephaly: A novel association.
61
|
Darouich S...Amraoui N
|
31859376 |
2020 |
36 |
Biallelic c.1263dupC in DOK7 results in fetal akinesia deformation sequence.
61
|
Radhakrishnan P...Nayak SS
|
31880392 |
2020 |
37 |
Null variants in AGRN cause lethal fetal akinesia deformation sequence.
61
|
Geremek M...Nowakowska B
|
31730230 |
2020 |
38 |
Next generation sequencing in recurrent pregnancy loss-approaches and outcomes.
61
|
Rajcan-Separovic E
|
30991114 |
2020 |
39 |
Compound heterozygous mutation of MUSK causing fetal akinesia deformation sequence syndrome: A case report.
61
|
Li N...Liu CX
|
31750350 |
2019 |
40 |
Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation.
61
|
Syngelaki A...Nicolaides KH
|
31408229 |
2019 |
41 |
Severe biallelic loss-of-function mutations in nicotinamide mononucleotide adenylyltransferase 2 (NMNAT2) in two fetuses with fetal akinesia deformation sequence.
61
|
Lukacs M...Stottmann RW
|
31136762 |
2019 |
42 |
Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)-Aetiology, diagnosis, and management.
61
|
Niles KM...Chitayat D
|
31218730 |
2019 |
43 |
SLC18A3 variants lead to fetal akinesia deformation sequence early in pregnancy.
61
|
Hakonen AH...Aittomaki K
|
31059209 |
2019 |
44 |
Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.
61
|
Quinlan-Jones E...Kilby MD
|
30293990 |
2019 |
45 |
Isolated vocal cord paralysis in two siblings with compound heterozygous variants in MUSK: Expanding the phenotypic spectrum.
61
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Murali C...Bhoj E
|
30719842 |
2019 |
46 |
Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum.
61
|
Alkhunaizi E...Chitayat D
|
30652412 |
2019 |
47 |
Fetal akinesia deformation sequence, arthrogryposis multiplex congenita, and bilateral clubfeet: Is motor assessment of additional value for in utero diagnosis? A 10-year cohort study.
61
|
Tjon JK...de Vries JI
|
30578734 |
2019 |
48 |
Novel pathogenic variants in GBE1 causing fetal akinesia deformation sequence and severe neuromuscular form of glycogen storage disease type IV.
61
|
Radhakrishnan P...Girisha KM
|
30303820 |
2019 |
49 |
Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence.
61
|
Bonnin E...Fahrenkrog B
|
30543681 |
2018 |
50 |
Pena-Shokeir syndrome: current management strategies and palliative care.
61
|
Adam S...Honey EM
|
30498368 |
2018 |